Article
Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.
The Journal of investigative dermatology - 1 May 2002
Whittock Neil V, Smith Frances J, Wan Hong, Mallipeddi Rajeev, Griffiths W Andrew, Dopping-Hepenstal Patricia, Ashton Gabrielle H, Eady Robin A, McLean W H Irwin, McGrath John A
Abstract excerpt
The striate form of palmoplantar keratoderma is a rare autosomal dominant disorder affecting palm and sole skin. Genetic heterogeneity of striate palmoplantar keratoderma has been demonstrated with pathogenic mutations in the desmosomal proteins desmoplakin and desmoglein 1. We have studied a four-generation family of British descent with striate palmoplantar keratoderma. Ultrastructural studies show that...
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