IVS8+1 DelG, a Novel Splice Site Mutation Causing DFNA5 Deafness in a Chinese Family

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 worl...

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Bibliographic Details
Main Authors: Mei-Na Li-Yang, Xiao-Fei Shen, Qin-Jun Wei, Jun Yao, Ya-Jie Lu, Xin Cao, Guang-Qian Xing
Format: Article
Language:English
Published: Wolters Kluwer 2015-01-01
Series:Chinese Medical Journal
Subjects:
Online Access:http://www.cmj.org/article.asp?issn=0366-6999;year=2015;volume=128;issue=18;spage=2510;epage=2515;aulast=Li-Yang