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1.
Masataka Yano Ryohsuke Aoki Yoshihumi Nakahara Norihiro Itsubo Toshio Ohta 《The International Journal of Life Cycle Assessment》2000,5(5):261-264
The Ministry of International Trade and Industry (MITI) has launched a national project, ‘Development of Assessment Technology
of Life Cycle Environmental Impacts of Products’ (commonly known as the LCA Project). The activities of this project will
be continued for 5 yeas since fiscal 1998 with an overall budget of total 850 million yen. The LCA Project aims to develop
a highly reliable LCA database and LCA methodology which can be readily used throughout Japan. In this paper, the overall
plans and current activities of project are indicated. 相似文献
2.
Pant Rana Van Hoof Gert Schowanek Diederik Feijtel Tom C. J. de Koning Arjan Hauschild Michael Olsen Stig I. Pennington David W. Rosenbaum Ralph 《The International Journal of Life Cycle Assessment》2004,9(5):295-306
Background and Objective In the OMNIITOX project 11 partners have the common objective to improve environmental management tools for the assessment
of (eco)toxicological impacts. The detergent case study aims at: i) comparing three Procter &c Gamble laundry detergent forms
(Regular Powder-RP, Compact Powder-CP and Compact Liquid-CL) regarding their potential impacts on aquatic ecotoxicity, ii)
providing insights into the differences between various Life Cycle Impact Assessment (LCIA) methods with respect to data needs
and results and iii) comparing the results from Life Cycle Assessment (LCA) with results from an Environmental Risk Assessment
(ERA).
Material and Methods The LCIA has been conducted with EDIP97 (chronic aquatic ecotoxicity) [1], USES-LCA (freshwater and marine water aquatic ecotoxicity,
sometimes referred to as CML2001) [2, 3] and IMPACT 2002 (covering freshwater aquatic ecotoxicity) [4]. The comparative product
ERA is based on the EU Ecolabel approach for detergents [5] and EUSES [6], which is based on the Technical Guidance Document
(TGD) of the EU on Environmental Risk Assessment (ERA) of chemicals [7]. Apart from the Eco-label approach, all calculations
are based on the same set of physico-chemical and toxicological effect data to enable a better comparison of the methodological
differences. For the same reason, the system boundaries were kept the same in all cases, focusing on emissions into water
at the disposal stage.
Results and Discussion Significant differences between the LCIA methods with respect to data needs and results were identified. Most LCIA methods
for freshwater ecotoxicity and the ERA see the compact and regular powders as similar, followed by compact liquid. IMPACT
2002 (for freshwater) suggests the liquid is equally as good as the compact powder, while the regular powder comes out worse
by a factor of 2. USES-LCA for marine water shows a very different picture seeing the compact liquid as the clear winner over
the powders, with the regular powder the least favourable option. Even the LCIA methods which result in die same product ranking,
e.g. EDIP97 chronic aquatic ecotoxicity and USES-LCA freshwater ecotoxicity, significantly differ in terms of most contributing
substances. Whereas, according to IMPACT 2002 and USES-LCA marine water, results are entirely dominated by inorganic substances,
the other LCIA methods and the ERA assign a key role to surfactants. Deviating results are mainly due to differences in the
fate and exposure modelling and, to a lesser extent, to differences in the toxicological effect calculations. Only IMPACT
2002 calculates the effects based on a mean value approach, whereas all other LCIA methods and the ERA tend to prefer a PNEC-based
approach. In a comparative context like LCA the OMNIITOX project has taken the decision for a combined mean and PNEC-based
approach, as it better represents the ‘average’ toxicity while still taking into account more sensitive species. However,
the main reason for deviating results remains in the calculation of the residence time of emissions in the water compartments.
Conclusion and Outlook The situation that different LCIA methods result in different answers to the question concerning which detergent type is to
be preferred regarding the impact category aquatic ecotoxicity is not satisfactory, unless explicit reasons for the differences
are identifiable. This can hamper practical decision support, as LCA practitioners usually will not be in a position to choose
the ’right’ LCIA method for their specific case. This puts a challenge to the entire OMNIITOX project to develop a method,
which finds common ground regarding fate, exposure and effect modelling to overcome the current situa-tion of diverging results
and to reflect most realistic conditions. 相似文献
3.
Zulina Zakaria Mohd Nasir Hassan Muhamad Awang 《The International Journal of Life Cycle Assessment》1999,4(4):191-194
Conclusion In conclusion, LCA that is conducted and used appropriately is an indispensable tool to assist decision-makers in making an
informed decision about the environmental impacts of their activities, products or services. A global effort towards LCA use
should be encouraged and countries in the Asian/Pacific Regions should not be left out. LCA-related activities reported in
the symposium were described 相似文献
4.
Background
In the years 2000 and 2002, the German Environment Agency in Berlin (UBA) published the results of a comprehensive LCA study on beverage containers comprising aluminium cans with volumes of 330 ml and 500 ml. Starting with the aluminium can scenarios and the respective results obtained during the UBA study, additional analyses were performed by IFEU in 2003, a German consultant having been a member of the project team working on the UBA study. The objective was to examine the influence of selected parameters on the LCA profile of carbonated soft drink containers. Data and method were in complete analogy with the LCI and LCA part of the UBA study. 相似文献5.
Patrik J. G. Henriksson Jeroen B. Guinée René Kleijn Geert R. de Snoo 《The International Journal of Life Cycle Assessment》2012,17(3):304-313
Purpose
As capture fishery production has reached its limits and global demand for aquatic products is still increasing, aquaculture has become the world’s fastest growing animal production sector. In attempts to evaluate the environmental consequences of this rapid expansion, life cycle assessment (LCA) has become a frequently used method. The present review of current peer-reviewed literature focusing on LCA of aquaculture systems is intended to clarify the methodological choices made, identify possible data gaps, and provide recommendations for future development within this field of research. The results of this review will also serve as a start-up activity of the EU FP7 SEAT (Sustaining Ethical Aquaculture Trade) project, which aims to perform several LCA studies on aquaculture systems in Asia over the next few years. 相似文献6.
Life cycle assessment of soil and groundwater remediation technologies: literature review 总被引:1,自引:0,他引:1
Gitte Lemming Michael Z. Hauschild Poul L. Bjerg 《The International Journal of Life Cycle Assessment》2010,15(1):115-127
Background, aim, and scope
Life cycle assessment (LCA) is becoming an increasingly widespread tool in support systems for environmental decision-making regarding the cleanup of contaminated sites. In this study, the use of LCA to compare the environmental impacts of different remediation technologies was reviewed. Remediation of a contaminated site reduces a local environmental problem, but at the same time, the remediation activities may cause negative environmental impacts on the local, regional, and global scale. LCA can be used to evaluate the inherent trade-off and to compare remediation scenarios in terms of their associated environmental burden. 相似文献7.
Guinée Jeroen B. Koning Arjan de Pennington David W. Rosenbaum Ralph Hauschild Michael Olsen Stig I. Molander Sverker Bachmann Till M. Pant Rana 《The International Journal of Life Cycle Assessment》2004,9(5):320-326
Goal, Scope and Background The EU 5th framework project OMNIITOX will develop models calculating characterisation factors for assessing the potential toxic impacts
of chemicals within the framework of LCA. These models will become accessible through a web-based information system. The
key objective of the OMNIITOX project is to increase the coverage of substances by such models. In order to reach this objective,
simpler models which need less but available data, will have to be developed while maintaining scientific quality. Methods.
Experience within the OMNIITOX project has taught that data availability and quality are crucial issues for calculating characterisation
factors. Data availability determines whether calculating characterisation factors is possible at all, whereas data quality
determines to what extent the resulting characterisation factors are reliable. Today, there is insufficient knowledge and/or
resources to have high data availability as well as high data quality and high model quality at the same time.
Results The OMNIITOX project is developing two inter-related models in order to be able to provide LCA impact assessment characterisation
factors for toxic releases for as broad a range of chemicals as possible: 1) A base model representing a state-of-the-art
multimedia model and 2) a simple model derived from the base model using statistical tools. Discussion. A preliminary decision
tree for using the OMNIITOX information system (IS) is presented. The decision tree aims to illustrate how the OMNIITOX IS
can assist an LCA practitioner in finding or deriving characterisation factors for use in life cycle impact assessment of
toxic releases.
Conclusions and Outlook Data availability and quality are crucial issues when calculating characterisation factors for the toxicity impact categories.
The OMNIITOX project is developing a tiered model approach for this. It is foreseen that a first version of the base model
will be ready in late summer of 2004, whereas a first version of the simple base model is expected a few months later. 相似文献
8.
Intention, Goal, Scope, Background Input-Output Analysis (IOA) has recently been introduced to Life Cycle Assessment (LCA). In applying IOA to LCA studies, however,
it is important to note that there are both advantages and disadvantages.
Objectives This paper aims to provide a better understanding of the advantages and disadvantages of adopting IOA in LCA, and introduces
the methodology and principles of the Missing Inventory Estimation Tool (MIET) as one of the approaches to combine the strengths
of process-specific LCA and IOA. Additionairy, we try to identify a number of possible errors in the use of IOA for LCA purposes,
due to confusion between industry output and commodity, consumer’s price and producer’s price.
Method MIET utilises the 1996 US input-output table and various environmental statistics. It is based on an explicit distinction
between commodity and industry output.
Results and Discussion MIET is a self-contained, publicly available database which can be applied directly in LCA studies to estimate missing processes.
Conclusion By adopting MILT results in existing, process-based, life-cycle inventory (LCI), LCA practitioners can fully utilise the process-specific
information while expanding the system boundary.
Recommendations and Outlook MIET will be continuously updated to reflect both methodological developments and newly available data sources. For supporting
information sec http:// wwwJeidenuniv.nl/cml/ssp/softwarc/miet. 相似文献
9.
Junichi Kasai 《The International Journal of Life Cycle Assessment》2000,5(5):313-316
Experiences with-Life Cycle Assessment (LCA) in the Japanese Automotive Industry and the author’s thoughts on how to apply
LCA for automobiles are described. In this paper, LCA applications are categorized into three types:
The idea of the above mentioned categorization and distinctions of LCA applications may also be useful for assembly-based
industries other than the automotive industry. 相似文献
1. | LCA that is strictly based on ISO 14040 series standards → In Japan, this type of LCA studies is used commonly by industry-wide or nation-wide research work, |
2. | LCA that is somehow not consistent with the ISO standards → This type is internally utilized by individual business companies for the purpose of development of environmentally conscious products with discussions about their own subjective judgement and choices, and |
3. | LCA that is completely streamlined in regard to the ISO standards → This type is limited to internal improvement activities for each process or shop in a factory, based on Life Cycle considerations. |
10.
产品生命周期评价(LCA)中的供应链数据收集非常困难而且效率低下,因而在产品LCA研究中常常近似处理、甚至忽略供应链实际生产过程,严重影响了LCA的数据质量与可信度。开发专门的供应链数据收集工具是解决这一问题的有效途径。介绍了可进行在线供应链调查、建模与计算分析的LCA系统e Footprint,基于该系统提出了在线的LCA工作方法,通过长虹美菱冰箱的应用案例验证了系统与方法的可行性,为提高产品LCA的效率和质量提供了新的解决方案。 相似文献
11.
Caroline Gaudreault Réjean Samson Paul René Stuart 《The International Journal of Life Cycle Assessment》2010,15(2):198-211
Background, aim, and scope
North American pulp and paper mills are facing tremendous challenges, which may necessitate major mill modernizations. An example is process modification to reduce dependency on purchased power, which is an expensive resource. Such modifications may have environmental implications at the mills’ sites, on their product life cycle, and on other interconnected systems, and therefore, systematic tools such as life cycle assessment (LCA) need to be applied. Different LCA system boundary approaches can be used for such process design applications, and these approaches need to be compared to determine their respective benefits and limitations in this context. This study compares setting the system boundary according to a cradle-to-gate approach [attributional LCA (ALCA)] and a system expansion [consequential LCA (CLCA)] approach using a case study, which deals with implementing cogeneration and increased de-inked pulp production at an integrated newsprint mill. 相似文献12.
Louise Camilla Dreyer Michael Z. Hauschild Jens Schierbeck 《The International Journal of Life Cycle Assessment》2010,15(3):247-259
Background, aim, and scope
The authors have suggested earlier a framework for life cycle impact assessment to form the modelling basis of social LCA. In this framework, the fundamental labour rights were pointed out as obligatory issues to be addressed, and protection and promotion of human dignity and well-being as the ultimate goal and area of protection of social LCA. The intended main application of this framework for social LCA was to support management decisions in companies who wish to conduct business in a socially responsible manner, by providing information about the potential social impacts on people caused by the activities in the life cycle of a product. Environmental LCA normally uses quantitative and comparable indicators to provide a simple representation of the environmental impacts from the product lifecycle. This poses a challenge to the social LCA framework because due to their complexity, many social impacts are difficult to capture in a meaningful way using traditional quantitative single-criterion indicators. A salient example is the violation of fundamental labour rights (child labour, discrimination, freedom of association, and right to organise and collective bargaining, forced labour). Furthermore, actual violations of these rights somewhere in the product chain are very difficult to substantiate and hence difficult to measure directly. 相似文献13.
In 1998, the Japan’s Ministry of Economy, Trade, and Industry (METI) launched a five-year national project entitled ‘Development
of Life Cycle Impact Assessment for Products’ (commonly known as ‘the LCA Project’). The purpose of the project is to develop
common LCA methodology as well as a highly reliable database that can be shared in Japan. Activities over these five years
have resulted in the supply of LCI data on some 250 products. Industrial associations voluntarily provided data. The results
of these activities are currently being made available on the Internet on a trial basis in the form of an LCA database. In
addition, a method entitled ‘Life-cycle Impact assessment Method based on Endpoint modeling (LIME)’ was developed. It is expected
that these results will be widely used in Japan in the future. This paper presents an outline of the results of the research
and development that has been conducted in the LCA Project in Japan. 相似文献
14.
Goal, Scope and Background Two methods of simplified LCA were evaluated and compared to the results of a quantitative LCA. These are the Environmentally
responsible product assessment matrix developed by Graedel and Allenby and the MECO-method developed in Denmark.
Methods We used these in a case study and compared the results with the results from a quantitative LCA. The evaluation also included
other criteria, such as the field of application and the level of arbitrariness.
Results and Discussion The MECO-method has some positive qualities compared to the Environmentally responsible product assessment matrix. Examples
of this are that it generates information complementary to the quantitative LCA and provides the possibility to consider quantitative
information when such is available. Some of the drawbacks with the Environmentally responsible product assessment matrix are
that it does not include the whole lifecycle and that it allows some arbitrariness.
Conclusions Our study shows that a simplified and semi-quantitative LCA (such as the MECO-method) can provide information that is complementary
to a quantitative LCA. In this case the method generates more information on toxic substances and other impacts, than the
quantitative LCA. We suggest that a simplified LCA can be used both as a pre-study to a quantitative LCA and as a parallel
assessment, which is used together with the quantitative LCA in the interpretation.
Recommendations and Outlook A general problem with qualitative analyses is how to compare different aspects. Life cycle assessments are comparative. The
lack of a quantitative dimension hinders the comparison and can thereby hinder the usefulness of the qualitative method. There
are different approaches suggested to semiquantify simplified methods in order to make quantitative comparisons possible.
We think that the use of fabricated scoring systems should be avoided. If quantitative information is needed, one should consider
performing a simplified quantitative LCA instead. 相似文献
15.
Anna Lewandowska Zenon Foltynowicz Andrzej Podlesny 《The International Journal of Life Cycle Assessment》2004,9(2):86-89
Goal, Scope and Background The main aim of this paper is to present some methodological considerations concerning existing methods used to assess quality
of the LCA study. It relates mainly to the quality of data and the uncertainty of the LCA results. The first paper is strictly
devoted to methodological aspects whereas, the second is presented in a separate article (Part II) and devoted mainly to a
case study.
Methods The presented analysis is based on two well-known concepts: the Data Quality Indicators (DQIs) and the Pedigree Matrix. In
the first phase, the Sensitivity Indicators are created on the basis of the sensitivity analysis and then linked with the
DQIs and the Quality Classes. These parameters indicate the relative importance of input data and their theoretical quality
levels. Next, the Weidema’s Pedigree Matrix (slightly modified) is used to establish the values of the new parameter called
the Data Quality Distance (DQD) and to link them with the DQIs and Quality Classes. This way the information about the “real”
quality levels is provided. Further analysis is performed using the probabilistic distributions and Monte Carlo simulations.
Results and Discussion Thanks to this approach it is possible to make a comparison between two types of the quality factors. On the one hand, the
sensitivity analysis allows one to check the importance of input data and to determine their required quality. It is done
according to the following relation: the higher the sensitivity indicator, the higher the importance of input data and the
higher quality should be demanded. On the other hand the data have a certain real quality, not always in accord with the demanded
one. To make possible a comparison between these two types of quality, it is necessary to find and develop a common denominator
for them. Here, for this purpose the DQIs and Quality Classes are used.
Conclusions In the further stage of the assessment the DQIs are used to perform the uncertainty analysis of the LCA results. The results
could be additionally analysed by using other techniques of interpretation: the sensitivity-, the contribution-, the comparative-,
the discernability- and the uncertainty analysis.
Recommendations and Outlook The presented approach is put into practice to conduct the comparative LCA study for the industrial pumps by using the Ecoindicator99
method. Thanks to this, complex analysis of the credibility of the results is carried out. As a consequence, uncertainty ranges
for the LCA results of every product system can be determined [1]. 相似文献
16.
17.
Background, aim, and scope Life cycle assessment (LCA) has been considered one of the tools for supporting decision-making related to the environmental
aspects of a product system. It has mainly been used to evaluate the potential impacts associated with relevant inputs and
outputs to/from a given product system throughout its life cycle. In most cases, LCA has not considered the impacts on the
internal environment, i.e. working environment, but only the external environment. Recently, it has been recognized that the
consideration of the impacts on the working environment as well as on the external environment, is needed in order to assess
all aspects of the effects on human well-being. To this end, this study has developed a total environmental assessment methodology
which enables one to integrate both the working environment and the external environment into the conventional LCA framework.
Materials and methods In general, the characteristics of the impacts on the external environment are different from those on the working environment.
In order to properly integrate the two types into total environmental impacts, it is necessary to define identical system
boundaries and select impact category indicators at the same level. In order to define the identical system boundary and reduce
the uncertainties of LCI results, the hybrid IOA (input–output analysis) method, which integrates the advantages between conventional
LCI method and IOA method, is introduced to collect input and output data throughout the entire life cycle of a given product.
For the impact category indicators at the endpoint level, LWD (Lost Work Days) is employed to evaluate the damage to human
health and safety in the working environment, while DALY (disability-adjusted life years) and PAF (Potentially Affected Fraction)
are selected to evaluate the damage to human health and eco-system quality in the external environment, respectively.
Results and discussion The environmental intervention factors (EIFs) are developed not only for the data categories of resource use, air emissions,
and water emissions, but also for occupational health and safety to complete a life cycle inventory table. For the development
of the EIFs on occupational health and safety, in particular, the number of workers affected by i hazardous items and the number of workers affected at the i magnitude of disability are collected. For the characterization of the impact categories in the working environment, such
as occupational health and safety, the exposure factors, effect factors, and damage factors are developed to calculate the
LWD of each category. For normalization, the normalization reference is defined as the total LWD divided by the total number
of workers. A case study is presented to illustrate the applicability of the proposed method for the integration of the working
environment into the conventional LCA framework.
Conclusions This study is intended to develop a methodology which enables one to integrate the working environmental module into the conventional
LCA framework. The hybrid IOA method is utilized to extend the system boundary of both the working environment module and
the external environment module to the entire life cycle of a product system. In this study, characterization models and category
indicators for occupational health and safety are proposed, respectively, while the methodology of Eco-indicator 99 is used
for the external environment. In addition to aid further understanding on the results of this method, this study introduced
and developed the category indicators such as DALY, and LWD, which can be expressed as a function of time, and introduced
PAF, which can be expressed as a probability.
Recommendations and perspectives The consideration of the impacts not only on the external environment, but also on the working environment, is very important,
because the best solution for the external environment may not necessarily be the best solution for the working environment.
It is expected that the integration of occupational health and safety matters into the conventional LCA framework can bring
many benefits to individuals, as well as industrial companies, by avoiding duplicated measures and false optimization. 相似文献
18.
Mizushina Y Kasai N Miura K Hanashima S Takemura M Yoshida H Sugawara F Sakaguchi K 《Biochemistry》2004,43(33):10669-10677
We reported previously that lithocholic acid (LCA, 3-alpha-hydroxy-5-beta-cholan-24-oic acid), one of the major compounds in the secondary bile acids, selectively inhibited the activity of mammalian DNA polymerase beta (pol beta) [Mizushina, Y., Ohkubo, T., Sugawara, F., and Sakaguchi, K. (2000) Biochemistry 39, 12606-12613]. The purpose of this study was to investigate the molecular structural relationship of LCA and its 10 chemically synthesized derivatives. The inhibitory activities of pol beta by some derivative compounds were stronger than that by LCA, and these compounds bound tightly to the 8-kDa domain fragment but not to the 31-kDa domain fragment of pol beta. Biacore analysis demonstrated that the 8-kDa domain bound selectively to compound 9 (3-alpha-O-lauroyl-5-beta-cholan-24-oic acid), which was the strongest pol beta inhibitor tested, as a 1:1 complex with a dissociation constant (K(d)) of 1.73 nM. From computer modeling analysis (i.e., molecular dynamics analysis), the 8-kDa domain had two inhibitor binding areas. Three amino acid residues (Lys60, Leu77, and Thr79) of the 8-kDa domain bound to LCA and compound 2 (3-alpha-methoxy-5-beta-cholan-24-oic acid), and four amino acid residues (Leu11, Lys35, His51, and Thr79) of the 8-kDa domain bound to compound 9. From these results, the structure-function relationship among pol beta and its selective inhibitors was discussed. 相似文献
19.
Karli L. James Tim Grant Kees Sonneveld 《The International Journal of Life Cycle Assessment》2002,7(3):151-157
Intention, Goal, Scope, Background To discuss the process of stakeholder involvement as undertaken in a post-consumer paper and packaging waste management LCA
study conducted during 1997-2001 for the Melbourne Metropolitan Area, Victoria, Australia. Secondly, to present the findings
from a survey conducted with the stakeholder groups regarding their perception of involvement in the project.
Objectives To investigate the stakeholder’s perception; and value of being involved in the LCA study intended to generate quantitative
environmental information to support debate, development and implementation of waste management practices.
Methods Stakeholders that were involved in the study, both actively and passively, were surveyed by questionnaire Survey findings
were analysed in conjunction with stakeholder interaction experiences obtained in the course of the study. as]Results and
Discussion
Respondents to the survey believed there was a sufficient level of interaction between stakeholders and researchers during
the course of the project. The advisory committee approach helped to timely recognize issues and deal with them appropriately.
It furdier assisted in the collection of life cycle inventory data and in obtaining ownership of outcomes by the research
ream appropriately responding to the needs and issues raised by stakeholders.
Recommendations and Outlook General recommendations for the inclusion of stakeholders in future studies are to use stakeholder interactions, wherever
it is possible and practical, which in turn play an educational role, engage stakeholders from the start of the process and
allow additional time in the project plan for review stages, as well as ensuring that all relevant groups are represented
— industry, industry associations, government and non-governmental organizations, and also provide sufficient material and
progress for discussion at meetings. 相似文献
20.
Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing 下载免费PDF全文
Saber Imani Jingliang Cheng Abdolkarim Mobasher‐Jannat Chunli Wei Shangyi Fu Lisha Yang Khosrow Jadidi Mohammad Hossein Khosravi Saman Mohazzab‐Torabi Marzieh Dehghan Shasaltaneh Yumei Li Rui Chen Junjiang Fu 《Journal of cellular and molecular medicine》2018,22(3):1733-1742
Leber congenital amaurosis (LCA) is a heterogeneous, early‐onset inherited retinal dystrophy, which is associated with severe visual impairment. We aimed to determine the disease‐causing variants in Iranian LCA and evaluate the clinical implications. Clinically, a possible LCA disease was found through diagnostic imaging, such as fundus photography, autofluorescence and optical coherence tomography. All affected patients showed typical eye symptoms associated with LCA including narrow arterioles, blindness, pigmentary changes and nystagmus. Target exome sequencing was performed to analyse the proband DNA. A homozygous novel c. 2889delT (p.P963 fs) mutation in the RPGRIP1 gene was identified, which was likely the deleterious and pathogenic mutation in the proband. Structurally, this mutation lost a retinitis pigmentosa GTPase regulator (RPGR)‐interacting domain at the C‐terminus which most likely impaired stability in the RPGRIP1 with the distribution of polarised proteins in the cilium connecting process. Sanger sequencing showed complete co‐segregation in this pedigree. This study provides compelling evidence that the c. 2889delT (p.P963 fs) mutation in the RPGRIP1 gene works as a pathogenic mutation that contributes to the progression of LCA. 相似文献