Article
Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratoderma.
Experimental dermatology - 1 Dec 2003
Lee Joo-Heung, Ahn Kwang-Sung, Lee Cha-Hui, Youn Seong-Jae, Kim Jong-Wook, Lee Dong-Youn, Lee Eil-Soo, Steinert Peter M, Yang Jun-Mo
Abstract excerpt
Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant disease characterized clinically by localized palmoplantar thickening and histopathologically by granular degeneration of the epidermis. Recent molecular biological studies have revealed that EPPK is caused by mutations of the keratin 9 gene in sequences mainly encoding the highly conserved 1 A rod domain. Here we demonstrate a novel mutation...
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