Article
[Mutational analysis of candidate genes in a Chinese pedigree with dominantly inherited auditory neuropathy].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery - 1 May 2012
Lu Xinhong, Chen Ruichun, Lu Yajie, Wei Qinjun, Chen Zhibin, Cao Xin, Xing Guangqian
Abstract excerpt
OBJECTIVE: Three genes including the OTOF, the DFNB59 and the DIAPH3 have been implicated previously in human non-syndromic auditory neuropathy. In this study, we aim to investigate whether DIAPH3 gene or the known deafness loci of 25 cloned autosomal dominant deafness (DFNA) genes contribute to the nonsyndromic hearing loss of a Chinese pedigree with dominantly inherited auditory neuropathy (AN). METHOD: Nine...
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