Browsing Molecular Biology and Genetics / Moleküler Biyoloji ve Genetik by Subject "Vohwinkel syndrome"
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The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome (American Society for Cell Biology, 2011-12-15)Mutations in the GJB2 gene (Cx26) cause deafness in humans. Most are loss-of-function mutations and cause nonsyndromic deafness. Some mutations produce a gain of function and cause syndromic deafness associated with skin ...