A novel RNA-splicing mutation in TRAPPC2 gene causing X-linked spondyloepiphyseal dysplasia tarda in a large Chinese family

被引：0
|
作者：
Hong Guo
Xueqing Xu
Kai Wang
Bo Zhang
Guohong Deng
Yan Wang
Yun Bai
机构：
[1] Third Military Medical University,Department of Medical Genetics
[2] Third Military Medical University,Department of Infectious Diseases, Southwest Hospital
来源：
Journal of Genetics | 2009年 / 88卷
关键词：
X-linked spondyloepiphyseal dysplasia tarda (SEDT); trafficking protein particle complex 2 (; ); mutation; alternate splicing; human genetics; Chinese population;
D O I：
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中图分类号：
学科分类号：
摘要：
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页码：87 / 91
页数：4
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