Article
Common mutation analysis of GJB2 and GJB6 genes in affected families with autosomal recessive non-syndromic hearing loss from Iran: simultaneous detection of two common mutations (35delG/del(GJB6-D13S1830)) in the DFNB1-related deafness.
International journal of pediatric otorhinolaryngology - 1 Jun 2007
Esmaeili Mohsen, Bonyadi Mortaza, Nejadkazem Mohammad
Abstract excerpt
OBJECTIVE: DFNB1 locus has been reported as a major cause of autosomal recessive non-syndromic hearing loss (ARNSHL) worldwide. 35delG and del(GJB6-D13S1830) are thought to be two common mutations in this locus among Caucasians. The aim of this study is to determine the significance of these two mutations in aetiology of ARNSHL in Iran. METHODS: One hundred and thirty-three unrelated patients with ARNSHL were...
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