Novel and recurrent mutations in keratin
โ
Felix B. Mรผller; Wolfgang Kรผster; Kerstin Wodecki; Hiram Almeida Jr.; Leena Bruc
๐
Article
๐
2006
๐
John Wiley and Sons
๐
English
โ 179 KB
๐ 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