Novel missense mutation (Y279S) in the GLRA1 gene causing hyperekplexia

被引：10
|
作者：
Poon, WT [1 ]
Au, KM
Chan, YW
Chan, KY
Chow, CB
Tong, SF
Lam, CW
机构：
[1] Princess Margaret Hosp, Dept Pathol, Hong Kong, Hong Kong, Peoples R China
[2] Princess Margaret Hosp, Dept Pediat, Hong Kong, Hong Kong, Peoples R China
[3] Chinese Univ Hong Kong, Prince Wales Hosp, Dept Chem Pathol, Hong Kong, Hong Kong, Peoples R China
来源：
CLINICA CHIMICA ACTA | 2006年 / 364卷 / 1-2期
关键词：
hyperekplexia; GLRA1; mutation;
D O I：
10.1016/j.cca.2005.09.018
中图分类号：
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号：
1001 ;
摘要：
引用
收藏
页码：361 / 362
页数：2
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