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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
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 disorders, such as keratitis-ichthyosis-deafness syndrome (KIDS). Cx26-G45E is...
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| Prif Awduron: | , , , , , , , |
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| Fformat: | Artigo |
| Iaith: | Inglês |
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The American Society for Cell Biology
2011
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| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3237621/ https://ncbi.nlm.nih.gov/pubmed/22031297 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1091/mbc.E11-09-0778 |
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