A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome

被引：3

作者：

Luo, Yu ^{[1
]}

Ling, Yan ^{[1
]}

Chen, Jiachao ^{[1
]}

Xu, Xi ^{[1
]}

Chen, Chen ^{[1
]}

Leng, Fei ^{[1
]}

Cheng, Jing ^{[1
]}

Chen, Min ^{[2
]}

Lu, Zhiqiang ^{[1
]}

机构：

[1] Fudan Univ, Zhongshan Hosp, Shanghai, Peoples R China

[2] Taizhou Peoples Hosp Jiangsu Prov, Taizhou, Peoples R China

来源：

CLINICAL CASE REPORTS | 2014年 / 2卷 / 02期

关键词：

Cockayne syndrome; CSB gene; mutation;

D O I：

10.1002/ccr3.47

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Cockayne syndrome (CS) is a rare autosomal recessive genetic disease characterized by growth failure and progressive neurological degeneration. Here we report a mild form of CS patient who was homozygous for the C526T transition resulting in a new nonsense mutation, which converts Arg176 to a stop codon.

引用

页码：33 / 36

页数：4

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