𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutation S233L in the 1B Domain of Keratin 1 Causes Epidermolytic Palmoplantar Keratoderma with “Tonotubular” Keratin

✍ Scribed by Terron-Kwiatkowski, Ana; van Steensel, Maurice A M; van Geel, Michel; Lane, E Birgitte; McLean, W H Irwin; Steijlen, Peter M


Book ID
110049229
Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
206 KB
Volume
126
Category
Article
ISSN
0022-202X

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


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