Mutation analysis of the entire keratin
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Petra H.L. Schuilenga-Hut; Pieter v.d. Vlies; Marcel F. Jonkman; EsmΓ© Waanders;
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Article
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2003
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John Wiley and Sons
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English
β 47 KB
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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.