Article
IVS8+1 DelG, a Novel Splice Site Mutation Causing DFNA5 Deafness in a Chinese Family.
Chinese medical journal - 20 Sept 2015
Li-Yang Mei-Na, Shen Xiao-Fei, Wei Qin-Jun, Yao Jun, Lu Ya-Jie, Cao Xin, Xing Guang-Qian
Abstract excerpt
BACKGROUND: Nonsyndromic hearing loss (NSHL) is highly heterogeneous, in which more than 90 causative genes have currently been identified. DFNA5 is one of the deafness genes that known to cause autosomal dominant NSHL. Until date, only five DFNA5 mutations have been described in eight families worldwide. In this study, we reported the identification of a novel pathogenic mutation causing DFNA5 deafness in a...
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