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Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma

✍ Scribed by Y. Shimomura; M. Wajid; J. Weiser; L. Kraemer; A. M. Christiano


Book ID
108696579
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
417 KB
Volume
35
Category
Article
ISSN
0307-6938

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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