Article
Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells.
Biochemical and biophysical research communications - 23 Aug 2002
Diestel Simone, Richard Gabriele, Döring Britta, Traub Otto
Abstract excerpt
The autosomal dominant skin disorder erythrokeratodermia variabilis (EKV) has been linked to mutations in the human connexin31 (hCx31) gene, which is expressed in the epidermis. We characterized and compared a pathogenic mutation resulting in replacement of amino acid glycine 12 with arginine (G12R) with wild-type hCx31 protein. HeLa cells were transfected with wild-type and mutant hCx31 cDNA, respectively, using...
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