title: Missense mutation at the helix termination region in the 2B domain of keratin 14 in a Japanese family with epidermolysis bullosa simplex, generalized, other.
authors.affiliation: Department of Dermatology, Shimane University Faculty of Medicine, Izumo, Shimane, Japan. kanekos2@med.shimane-u.jp
authors.forename: Sakae
authors.initials: S
authors.lastname: Kaneko
authors.forename: Takahiro
authors.initials: T
authors.lastname: Hamada
authors.forename: Yuko
authors.initials: Y
authors.lastname: Kawano
authors.forename: Takashi
authors.initials: T
authors.lastname: Hashimoto
authors.forename: Eishin
authors.initials: E
authors.lastname: Morita
mesh_terms: D044466:Asian People / Q000235:genetics*; D001706:Biopsy; D002675:Child, Preschool; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics* / Q000473:pathology; D005192:Family Health; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D053547:Keratin-14 / Q000235:genetics*; D008297:Male; D008854:Microscopy, Electron; D020125:Mutation, Missense; D010375:Pedigree; D017434:Protein Structure, Tertiary; D012867:Skin / Q000473:pathology* / Q000648:ultrastructure
chemical_list: C507540:KRT14 protein, human; D053547:Keratin-14