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The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity

Mutations in the human gene encoding connexin 26 (Cx26 or GJB2) cause either nonsyndromic deafness or syndromic deafness associated with skin diseases. That distinct clinical disorders can be caused by different mutations within the same gene suggests that different channel activities influence the...

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Bibliografski detalji
Glavni autori: Mhaske, Pallavi V., Levit, Noah A., Li, Leping, Wang, Hong-Zhan, Lee, Jack R., Shuja, Zunaira, Brink, Peter R., White, Thomas W.
Format: Artigo
Jezik:Inglês
Izdano: American Physiological Society 2013
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3680649/
https://ncbi.nlm.nih.gov/pubmed/23447037
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1152/ajpcell.00374.2012
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