Article
De novo mutation of keratin 9 gene in two Taiwanese patients with epidermolytic palmoplantar keratoderma.
Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Jul 2003
Yang Mei-Hui, Lee Julia Yu-Yun, Lin Jeng-Hsien, Chao Sheau-Chiou
Abstract excerpt
Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant hereditary disorder of keratinization. Recent molecular studies have shown that EPPK is caused by mutations in keratin 9 gene (K9). We report 2 unrelated sporadic cases of EPPK in Taiwanese, confirmed by histopathology and electron microscopy. A de novo mutation with a C to T transition at the first nucleotide of codon 162 in K9 was detected...
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