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Molecular characterization of four new mutations in the genes for keratin 5 and 14 associated with the disease epidermolysis bullosa simplex in 7 seemingly unrelated patients

✍ Scribed by Sørensen, C.B.; Ladekjær-Mikkelsen, A.-S.; Andresen, B.S.; Eiberg, H.; Kruse, T.A.; Jensen, P.K.A.; Bolund, L.; Gregersen, N.

Book ID: 119562033
Publisher: Elsevier Science
Year: 1998
Tongue: English
Weight: 174 KB
Volume: 16
Category: Article
ISSN: 0923-1811
DOI: 10.1016/s0923-1811(98)83252-0

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Mutation analysis of the entire keratin

Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations

✍ 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.