Article
Absence of GJB6 mutations in Indian patients with non-syndromic hearing loss.
International journal of pediatric otorhinolaryngology - 1 Mar 2011
Bhalla Seema, Sharma Rajni, Khandelwal Gaurav, Panda Naresh K, Khullar Madhu
Abstract excerpt
OBJECTIVE: Hearing loss is the most frequent sensory defect in human being. Genetic factors account for at least half of all cases of profound congenital deafness. The 13q11-q12 region contains the GJB2 and GJB6 genes, which code connexin 26 (CX26) and connexin 30 (CX30) proteins, respectively. Mutations in the gene GJB2, encoding the gap junction protein connexin 26, are considered to be responsible for up to...
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