共查询到2条相似文献,搜索用时 0 毫秒
1.
Shui-Tein Chen Shiah-Yun Chen Shu-Chyong Hsiao Kung-Tsung Wang 《Biotechnology letters》1991,13(11):773-778
Summary An industrial alkaline protease Alcalase has been found to be very stable in organic solvents and usable as a catalyst for resolution of N-protected amino acids, in both aqueous solution and organic solvent with high yield and optical purity. Only the L-amino acid ester has been hydrolysed.Abbreviation Cbz-
carbobenzyloxy-
- OMe
methyl ester
- Hop
homophenylalanine
- Nol
norleucine
- Aba
-amino butyric acid
- Nov
norvaline
- Fug
furylglycine 相似文献
2.
Gang Liu Xiaoming Wei Rui Chen Hanlin Zhou Xiaoyan Li Yan Sun Shuqi Xie Qian Zhu Ning Qu Guanghui Yang Yuxing Chu Haitao Wu Zhangzhang Lan Jinming Wang Yi Yang Xin Yi 《Gene》2014
Type II citrullinaemia, also known as citrin deficiency, is an autosomal recessive metabolic disorder, which is caused by pathogenic mutations in the SLC25A13 gene on chromosome 7q21.3. One of the clinical manifestations of type II citrullinaemia is neonatal intrahepatic cholestatic hepatitis caused by citrin deficiency (NICCD, OMIM# 605814). In this study, a 5-month-old female Chinese neonate diagnosed with type II citrullinaemia was examined. The diagnosis was based on biochemical and clinical findings, including organic acid profiling using a gas chromatography mass spectrometry (GC/MS), and the patient's parents were unaffected. Approximately 14 kb of the exon sequences of the SLC25A13 and two relative genes (ASS1 and FAH) from the proband and 100 case-unrelated controls were captured by array-based capture method followed by high-throughput next-generation sequencing. Two single-nucleotide mutations were detected in the proband, including the previous reported c.1177+1G>A mutation and a novel c.754G>A mutation in the SLC25A13 gene. Sanger sequence results showed that the patient was a compound heterozygote for the two mutations. The novel mutation (c.754G>A), which is predicted to affect the normal structure and function of citrin, is a candidate pathogenic mutation. Target sequence capture combined with high-throughput next-generation sequencing technologies is proven to be an effective method for molecular genetic testing of type II citrullinaemia. 相似文献