Article
A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex.
The Journal of investigative dermatology - 1 Aug 1996
Nomura K, Shimizu H, Meng X, Umeki K, Tamai K, Sawamura D, Nagao K, Kawakami T, Nishikawa T, Hashimoto I
Abstract excerpt
We examined keratin K14 and K5 genes mutation in a Japanese Dowling-Meara epidermolysis bullosa simplex patient with severe generalized blistering and erosions at birth. The patient had a C to T transition at the first position of codon 174 in the keratin K5 gene, which resulted in a Leu->Phe sub...
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