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A novel mutation of keratin 9 gene (R162P) in a Japanese family with epidermolytic palmoplantar keratoderma

✍ Scribed by Atsushi Kon; Kae Itagaki; Kozo Yoneda; Keiichi Takagaki


Publisher
Springer-Verlag
Year
2004
Tongue
English
Weight
259 KB
Volume
296
Category
Article
ISSN
0340-3696

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A case of spontaneous mutation in the ke
✍ Vanessa A Morgan; Keith Byron; Lisa Paiman2; George A Varigos1 πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 99 KB

## 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