title: Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: positional effects of premature termination codon mutations on clinical severity. Japanese Collaborative Study Group on Epidermolysis Bullosa.
authors.forename: K
authors.initials: K
authors.lastname: Tamai
authors.forename: T
authors.initials: T
authors.lastname: Murai
authors.forename: M
authors.initials: M
authors.lastname: Mayama
authors.forename: A
authors.initials: A
authors.lastname: Kon
authors.forename: K
authors.initials: K
authors.lastname: Nomura
authors.forename: D
authors.initials: D
authors.lastname: Sawamura
authors.forename: K
authors.initials: K
authors.lastname: Hanada
authors.forename: I
authors.initials: I
authors.lastname: Hashimoto
authors.forename: H
authors.initials: H
authors.lastname: Shimizu
authors.forename: T
authors.initials: T
authors.lastname: Masunaga
authors.forename: T
authors.initials: T
authors.lastname: Nishikawa
authors.forename: Y
authors.initials: Y
authors.lastname: Mitsuhashi
authors.forename: A
authors.initials: A
authors.lastname: Ishida-Yamamoto
authors.forename: S
authors.initials: S
authors.lastname: Ikeda
authors.forename: H
authors.initials: H
authors.lastname: Ogawa
authors.forename: J A
authors.initials: JA
authors.lastname: McGrath
authors.forename: L
authors.initials: L
authors.lastname: Pulkkinen
authors.forename: J
authors.initials: J
authors.lastname: Uitto
mesh_terms: D000328:Adult; D000483:Alleles; D003062:Codon / Q000235:genetics; D003094:Collagen / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000453:epidemiology / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D009154:Mutation; D017354:Point Mutation; D012720:Severity of Illness Index
chemical_list: D003062:Codon; D003094:Collagen