Article
Mechanism of a novel missense mutation, p.V174M, of the human connexin31 (GJB3) in causing nonsyndromic hearing loss.
Biochemistry and cell biology = Biochimie et biologie cellulaire - 1 Aug 2014
Li Tung-Cheng, Kuan Yu-Hsiang, Ko Tzu-Yu, Li Chuan, Yang Jiann-Jou
Abstract excerpt
Hearing loss is the most common sensory disorder, worldwide. In a recent study, we have identified a missense mutation, p.V174M, in the connexin 31 encoded by the GJB3 gene, in a patient with nonsyndromic hearing loss. However, the functional change in the CX31V174M mutant remains unknown. This study compared the intracellular distribution and assembly of the mutant CX31V174M with that of the wild-type (WT) CX31...
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