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Rami A. Jarjour 《Molecular biology reports》2010,37(1):1-5
Familial Mediterranean fever is an autosomal recessive disorder characterized by recurrent attacks of abdominal pain, synovitis
and pleuritis. MEFV gene mutations are responsible for the disease. The objective of this study was to identify the frequency and distribution
of 12 MEFV mutations in 153 Syrian patients and perform a genotype–phenotype correlation in the patients’ cohort. Of the 153 unrelated
patients investigated, 97 (63.4%) had at least one mutation. The most frequent mutation was M694V (36.5%), followed by V726A
(15.2%), E148Q (14.5%), M680I (G/C) (13.2%), and M694I (10.2%) mutations. Rare mutations (R761H, A744S, M680I (G/A), K695R,
P369S, F479L and I692del) were also detected in the patients. M694V was associated with the severe form of the disease. The
identification of a significant number of FMF patients with no mutations or only one known mutation identified indicates the
presence of new mutations in the MEFV gene which will be investigated in the future. 相似文献
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Nana Li Chao Xia Rui Zhong Yawen Ju Zhibiao Nan Michael J. Christensen Xingxu Zhang 《中国科学:生命科学英文版》2018,61(7):864-866
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Wetland restoration in highly modified landscapes involves balancing target ecosystem functions and values with constraints of landscape and stakeholder context. Often, a restored wetland complex cannot meet all target conditions simultaneously, and tradeoffs must be understood, evaluated, and quantified. We examined the tradeoff between providing migratory bird sanctuary and increasing public recreational opportunities within a restored floodplain wetland complex along the Illinois River. We surveyed the distribution and behavior of waterbirds in response to a gradient of spatial and temporal disturbances from waterbird hunting activities. Using ArcMap and spatial interpolation of waterbird densities as a novel approach to quantify sanctuary area, we estimated that approximately 42% of Emiquon Preserve functioned as sanctuary across disturbance intensities, hunter distribution, and time periods during autumn migration. Waterbird abundance did not increase with short-term temporal sanctuary or decreased hunting intensity. Disturbance distance around hunting locations was 752.1 m, overall, and increased 38.4 m for each additional hunting party. Exclusion distance around hunting locations was greater in areas with greater mean disturbance frequency. We question the effectiveness of short-term temporal sanctuary for waterbirds at the expense of recreational opportunities and advocate our analytical approach to quantify sanctuary area and disturbance buffers without experimentally causing disturbances. 相似文献
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E. P. Kotsyuba 《Russian Journal of Marine Biology》2018,44(5):383-389
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