Article
Functional studies of human skin disease- and deafness-associated connexin 30 mutations.
Biochemical and biophysical research communications - 15 Nov 2002
Common John E A, Becker David, Di Wei-Li, Leigh Irene M, O'Toole Edel A, Kelsell David P
Abstract excerpt
Connexin 30 (Cx30) is a component of the gap junction complex. Dominant and recessive mutations in the GJB6 gene encoding Cx30 are associated with a variety of human inherited diseases primarily affecting the epidermis, hair, nail, and/or the inner ear. The underlying mechanism of disease associated with different GJB6 mutations such as the disruption of gap junction mediated intercellular communication is...
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