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A novel keratin 9 gene mutation (Asn160His) in a Taiwanese family with epidermolytic palmoplantar keratoderma

✍ Scribed by J.-H. Lin; M.-H. Lin; M.-H. Yang; S.-C. Chao

Book ID: 108692489
Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 92 KB
Volume: 29
Category: Article
ISSN: 0307-6938
DOI: 10.1111/j.1365-2230.2004.01497.x

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## SUMMARY Epidermolytic palmoplantar keratoderma appears to be due to defects in keratin 9, the palmoplantar specific type 1 keratin. We report a case of spontaneous mutation, a C to T transition at codon 162, resulting in an arginine to tryptophan substitution in the 1 A region of the alpha helic