Article
Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma.
European journal of human genetics : EJHG - 1 Mar 2001
Hunt D M, Rickman L, Whittock N V, Eady R A, Simrak D, Dopping-Hepenstal P J, Stevens H P, Armstrong D K, Hennies H C, Küster W, Hughes A E, Arnemann J, Leigh I M, McGrath J A, Kelsell D P, Buxton R S
Abstract excerpt
The adhesive proteins of the desmosome type of cell junction consist of two types of cadherin found exclusively in that structure, the desmogleins and desmocollins, coded by two closely linked loci on human chromosome 18q12.1. Recently we have identified a mutation in the DSG1 gene coding for desmoglein 1 as the cause of the autosomal dominant skin disease striate palmoplantar keratoderma (SPPK) in which affected...
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