Article
Cellular mechanisms of mutant connexins in skin disease and hearing loss.
Cell communication & adhesion - 1 Jan 2000
Common John E A, Di Wei-Li, Davies Derek, Galvin Helen, Leigh Irene M, O'Toole Edel A, Kelsell David P
Abstract excerpt
It has been demonstrated that distinct germline mutations within four connexin (Cx) genes, Cx26, Cx30, Cx31, and Cx30.3, underlie hearing loss and/or epidermal disease. Here, we describe two Cx26 mutations associated with skin disease. With the goal of understanding the mechanism(s) of Cx-associated human disease and how different mutations within the same Cx protein can result in different disorders, we...
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