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Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)

✍ Scribed by Reis, André; Hennies, Hans-Christian; Langbein, Lutz; Digweed, Martin; Mischke, Dietmar; Drechsler, Matthias; Schröck, Evelin; Royer-Pokora, Brigitte; Franke, Werner W.; Sperling, Karl


Book ID
109915146
Publisher
Nature Publishing Group
Year
1994
Tongue
English
Weight
768 KB
Volume
6
Category
Article
ISSN
1061-4036

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A case of spontaneous mutation in the ke
✍ Vanessa A Morgan; Keith Byron; Lisa Paiman2; George A Varigos1 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 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