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One novel and two recurrent mutations in the keratin 5 gene identified in Chinese patients with epidermolysis bullosa simplex

✍ Scribed by H. Y. Tang; W. D. Du; Y. Cui; X. Fan; C. Quan; Q. Y. Fang; F. S. Zhou; F. M. Yao; J. F. Wang; S. Yang; X. Zhang


Book ID
108696582
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
348 KB
Volume
34
Category
Article
ISSN
0307-6938

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Mutation analysis of the entire keratin
✍ Petra H.L. Schuilenga-Hut; Pieter v.d. Vlies; Marcel F. Jonkman; Esmé Waanders; 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 47 KB 👁 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. Müller; Wolfgang Küster; Kerstin Wodecki; Hiram Almeida Jr.; Leena Bruc 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 179 KB 👁 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