A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex.
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Nomura K, Shimizu H, Meng X, Umeki K, Tamai K, Sawamura D, Nagao K, Kawakami T, Nishikawa T, Hashimoto I
A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex.
J Invest Dermatol. 1996 Aug;107(2):253-4.
- PubMed ID
- 8757772 [ View in PubMed]
- Abstract
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 substitution at the highly conserved 1A domain in keratin K5. Thus, our results revealed a novel mutation in the helix initiation peptide of keratin K5.