Article
Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.
Human mutation - 1 Apr 2003
Schuilenga-Hut Petra H L, Vlies Pieter v d, Jonkman Marcel F, Waanders Esmé, Buys Charles H C M, Scheffer Hans
Abstract excerpt
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. Therefore, genomic KRT5 and KRT14 mutation analysis was initially limited to these hotspots. In this study we...
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