title: A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex.
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.
authors: Department of Dermatology, Hirosaki University School of Medicine, Japan.
authors: K
authors: K
authors: Nomura
authors: H
authors: H
authors: Shimizu
authors: X
authors: X
authors: Meng
authors: K
authors: K
authors: Umeki
authors: K
authors: K
authors: Tamai
authors: D
authors: D
authors: Sawamura
authors: K
authors: K
authors: Nagao
authors: T
authors: T
authors: Kawakami
authors: T
authors: T
authors: Nishikawa
authors: I
authors: I
authors: Hashimoto
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D017124:Conserved Sequence; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D015321:Gene Rearrangement; D006801:Humans; D007231:Infant, Newborn; D007633:Keratins / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D015345:Oligonucleotide Probes / Q000235:genetics
chemical_list: D015345:Oligonucleotide Probes; D007633:Keratins