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Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland

✍ Scribed by Takahiro Hamada; Yuko Kawano; Weronika Szczecinska; Katarzyna Wozniak; Shinichiro Yasumoto; Cezary Kowalewski; Takashi Hashimoto


Book ID
106078546
Publisher
Springer-Verlag
Year
2005
Tongue
English
Weight
234 KB
Volume
296
Category
Article
ISSN
0340-3696

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πŸ“œ SIMILAR VOLUMES


Mutation analysis of the entire keratin
✍ Petra H.L. Schuilenga-Hut; Pieter v.d. Vlies; Marcel F. Jonkman; EsmΓ© Waanders; πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 47 KB πŸ‘ 1 views

Epidermolysis bullosa simplex is a group of blistering skin disorders caused by defects in one of the keratin genes, KRT5 and KRT14. Previously reported KRT5 and KRT14 mutations are clustered in several hotspots, namely the rod ends of the 1A and 2B domains and in the non-helical linker region L12.

Novel and recurrent mutations in keratin
✍ Felix B. MΓΌller; Wolfgang KΓΌster; Kerstin Wodecki; Hiram Almeida Jr.; Leena Bruc πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 179 KB πŸ‘ 1 views

Epidermolysis bullosa simplex (EBS) is a group of autosomal dominant genetic skin disorders caused by mutations of the keratin genes KRT5 and KRT14. It is characterised by lysis of basal keratinocytes leading to the development of intraepidermal blisters upon minor mechanical trauma. We investigated