Article
A DFNA5 mutation identified in Japanese families with autosomal dominant hereditary hearing loss.
Annals of human genetics - 1 Mar 2014
Nishio Ayako, Noguchi Yoshihiro, Sato Tatsuya, Naruse Taeko K, Kimura Akinori, Takagi Akira, Kitamura Ken
Abstract excerpt
Mutations in DFNA5 lead to autosomal dominant nonsyndromic hereditary hearing loss (NSHHL). To date, four different mutations in DFNA5 have been reported to cause hearing loss. A 3 bp deletion mutation (c.991-15_991-13del) was identified in Chinese and Korean families with autosomal dominant NSHHL, which suggested that the 3 bp deletion mutation was derived from a single origin. In the present study, we performed...
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