Article
Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30.
European journal of human genetics : EJHG - 1 Sept 2010
Su Ching-Chyuan, Li Shuan-Yow, Su Mao-Chang, Chen Wei-Chi, Yang Jiann-Jou
Abstract excerpt
Hearing impairment is the most common sensory disorder worldwide. In a recent study, the authors have shown that a heterozygous missense mutation, p.R184Q, in the connexin 26 (Cx26) is causally related to hearing loss. However, the functional change in the Cx26R184Q mutant remains unknown. This study compared the intracellular distribution and assembly of mutant Cx26R184Q with that of the wild-type (WT) Cx26 and...
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