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WS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures 期刊论文

编号：

f4aece0d-2778-482d-939a-ea0cc3392062
作者：

Yu, Guang^[1] Yu, Manli^[1,2] Wang, Jiafeng^[1] Gao, Congrong^[3] Chen, Zhongjin^[4]
语种：

English
期刊：

ENDOCRINE ISSN：1355-008X 2010 年 38 卷 2 期 (147 - 152) ; OCT
收录：
关键词：

Wolfram syndrome DIDMOAD WFS1 gene Mutation Genetic diagnosis
摘要：

Wolfram syndrome is a rare hereditary disease characterized by diabetes mellitus and optic atrophy. The outcome of this disease is always poor. WFS1 gene mutation is the main cause of this disease. A patient with diabetes mellitus, diabetes insipidus, renal tract disorder, psychiatric abnormality, and cataract was diagnosed with Wolfram syndrome. Mutations in open reading frame (ORF) of WFS1 gene was analyzed by sequencing. Mutations in WFS1 gene was also summarized by a systematic review in Pubmed and Chinese biological and medical database. Sequencing of WFS1 gene in this patient showed a new mutation, 1962G>A, and two other nonsense mutations, 2433A>G and 2565G>A. Systematic review included 219 patients in total and identified 172 WFS1 gene mutations, most of which were located in Exon 8. These mutations in WFS1 gene might be useful in prenatal diagnosis of Wolfram syndrome.
推荐引用方式
GB/T 7714：

Yu Guang,Yu Man-li,Wang Jia-feng, et al. WS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures [J].ENDOCRINE,2010,38(2):147-152.
APA：

Yu Guang,Yu Man-li,Wang Jia-feng,Gao Cong-rong,&Chen Zhong-jin.(2010).WS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures .ENDOCRINE,38(2):147-152.
MLA：

Yu Guang, et al. "WS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures" .ENDOCRINE 38,2(2010):147-152.
入库时间：

2019/5/28 23:06:09
更新时间：

2019/5/28 23:06:09

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