Connexin 26: required for normal auditory function

被引：26

作者：

Kelley, PM ^{[1
]}

Cohn, E ^{[1
]}

Kimberling, WJ ^{[1
]}

机构：

[1] Boys Town Natl Res Hosp, Ctr Hereditary Commun Disorders, Omaha, NE 68131 USA

来源：

BRAIN RESEARCH REVIEWS | 2000年 / 32卷 / 01期

关键词：

connexin; 26; hearing loss; deafness; mutation;

D O I：

10.1016/S0165-0173(99)00080-6

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

A single base deletion mutation, 35delG, in the gene (GJB2/DFNB1)(OMIM 121011/220290) encoding the gap junction protein, connexin 26 is the most important single cause of genetic hearing loss in European and American populations. It is the cause of one of the most common human genetic disorders with a frequency similar to cystic fibrosis. Mutations in this connexin are associated with skin disorders. (C) 2000 Elsevier Science B.V. All rights reserved.

引用

页码：184 / 188

页数：5

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