title: A novel keratin 5 mutation in an African family with epidermolysis bullosa simplex indicates the importance of the amino acid located at the boundary site between the H1 and coil 1A domains.
authors: Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan. qxfjc346@yahoo.co.jp
authors: Satoru
authors: S
authors: Shinkuma
authors: Wataru
authors: W
authors: Nishie
authors: Witold K
authors: WK
authors: Jacyk
authors: Ken
authors: K
authors: Natsuga
authors: Hideyuki
authors: H
authors: Ujiie
authors: Hideki
authors: H
authors: Nakamura
authors: Masashi
authors: M
authors: Akiyama
authors: Hiroshi
authors: H
authors: Shimizu
mesh_terms: D000328:Adult; D044383:Black People / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D016110:Epidermolysis Bullosa Simplex / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D005260:Female; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006579:Heterozygote; D006801:Humans; D053547:Keratin-14 / Q000235:genetics; D053555:Keratin-5 / Q000737:chemistry / Q000235:genetics*; D008297:Male; D009154:Mutation; D009262:Nails / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D017434:Protein Structure, Tertiary; D012867:Skin / Q000473:pathology
chemical_list: C507540:KRT14 protein, human; C503940:KRT5 protein, human; D053547:Keratin-14; D053555:Keratin-5