Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

Anna Grifa,Carsten A. Wagner, Lucrezia D'Ambrosio,Salvatore Melchionda,Francesco Bernardi,Nuria Lopez-Bigas,Raquel Rabionet, Mariona Arbones,Matteo Della Monica,Xavier Estivill,Leopoldo Zelante,Florian Lang,Paolo Gasparini

Nature Genetics（1999）

引用 435|浏览0

暂无评分

摘要

Hearing loss is mainly due to genetic factors1. Mutations in the connexin-26 gene (GJB2), located on 13q12, are responsible for non-syndromic recessive and dominant forms of deafness2, 3, 4.

查看译文

关键词

Biomedicine,general,Human Genetics,Cancer Research,Agriculture,Gene Function,Animal Genetics and Genomics

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要