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Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene

✍ Scribed by A. Terron-Kwiatkowski; A. Terrinoni; B. Didona; G. Melino; D.J. Atherton; A.D. Irvine; W.H.I. McLean


Book ID
108667542
Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
322 KB
Volume
150
Category
Article
ISSN
0007-0963

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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