title: Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa.
authors.forename: Kazuko C
authors.initials: KC
authors.lastname: Sato-Matsumura
authors.forename: Kana
authors.initials: K
authors.lastname: Yasukawa
authors.forename: Yuki
authors.initials: Y
authors.lastname: Tomita
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Shimizu
mesh_terms: D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000150:complications / Q000235:genetics*; D005260:Female; D005998:Glycine / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D009264:Nails, Malformed / Q000150:complications / Q000235:genetics* / Q000473:pathology; D010375:Pedigree
chemical_list: D024143:Collagen Type VII; D005998:Glycine