Article
Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree.
Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Sept 2009
Liu X P, Ling J, Xiong H, Shi X L, Sun X, Pan Q, Hu Z M, Wu L Q, Liang D S, Long Z G, Dai H P, Xia J H, Xia K
Abstract excerpt
Diffuse palmoplantar keratoderma (DPPK) is an autosomal dominant genodermatosis characterized by uniform hyperkeratosis of the palm and sole epidermis. This disorder can be caused by mutations in the genes keratin 1, keratin 9, keratin 16, desmoglein 1 and plakoglobin. Here we present a DPPK Chinese pedigree and identify the aetiology as a novel missense mutation, L437P, located in a highly conserved helix motif...
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