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Novel Keratin 14 Mutations in Patients with Severe Recessive Epidermolysis Bullosa Simplex

✍ Scribed by Has, Cristina; Chang, Yow-Ren; Volz, Andreas; Hoeping, Doris; Kohlhase, Jürgen; Bruckner-Tuderman, Leena

Book ID: 110049386
Publisher: Nature Publishing Group
Year: 2006
Tongue: English
Weight: 117 KB
Volume: 126
Category: Article
ISSN: 0022-202X
DOI: 10.1038/sj.jid.5700312

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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.