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Epidermolysis Bullosa Simplex with Mottled Pigmentation Resulting from a Recurrent Mutation in KRT14

✍ Scribed by Harel, Avikam; Bergman, Reuven; Indelman, Margarita; Sprecher, Eli


Book ID
110049372
Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
154 KB
Volume
126
Category
Article
ISSN
0022-202X

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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