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Connexin26 mutations causing palmoplantar keratoderma and deafness interact with connexin43, modifying gap junction and hemichannel properties

Mutations in GJB2 (Cx26) cause either deafness, or deafness associated with skin diseases. That different disorders can be caused by distinct mutations within the same gene suggests that unique channel activities are influenced by each class of mutation. We have examined the functional characteristi...

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Bibliografiske detaljer
Udgivet i:J Invest Dermatol
Main Authors: Shuja, Zunaira, Li, Leping, Gupta, Shashank, Meşe, Gülistan, White, Thomas W.
Format: Artigo
Sprog:Inglês
Udgivet: 2016
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4731051/
https://ncbi.nlm.nih.gov/pubmed/26763442
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/JID.2015.389
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