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pubmed-article:20863150pubmed:abstractTextThis study demonstrated that five Cx26 mutations (R32H, S199F, 572delT, 631-632delGT, and Y155X) affect gap junction (GJ) functions by causing impaired membrane targeting and aberrant cellular localization, and one mutation (R165W) leads to a constriction of the channel pore with no dye coupling.lld:pubmed
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pubmed-article:20863150pubmed:articleTitleImpaired membrane targeting and aberrant cellular localization of human Cx26 mutants associated with inherited recessive hearing loss.lld:pubmed
pubmed-article:20863150pubmed:affiliationDepartment of Otolaryngology and Head-Neck Surgery, Second Xiangya Hospital of Central South University, Changsha, China. xiaozian@sina.comlld:pubmed
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