一名患有轻度科凯恩综合征的中国患者CSB基因中的新突变。
A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome.
作者信息
Luo Yu, Ling Yan, Chen Jiachao, Xu Xi, Chen Chen, Leng Fei, Cheng Jing, Chen Min, Lu Zhiqiang
机构信息
Zhongshan Hospital Fudan University Shanghai, China.
Taizhou People's Hospital of Jiangsu Province Taizhou, China.
出版信息
Clin Case Rep. 2014 Apr;2(2):33-6. doi: 10.1002/ccr3.47. Epub 2014 Feb 7.
Abstract
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.
摘要
科凯恩综合征（CS）是一种罕见的常染色体隐性遗传病，其特征为生长发育迟缓及进行性神经退行性变。在此，我们报告一例症状较轻的CS患者，其C526T转换呈纯合状态，导致一个新的无义突变，使精氨酸176转变为终止密码子。
Zotero 插件