title: Novel missense mutation of COL7A1 in a recessive dystrophic epidermolysis bullosa patient with mild clinical phenotype.
authors.affiliation: Department of Dermatology and Allergology, Juntendo University Graduate School of Medicine, Tokyo.
authors.forename: Nagisa
authors.initials: N
authors.lastname: Yoshihara
authors.forename: Hajime
authors.initials: H
authors.lastname: Nakano
authors.forename: Daisuke
authors.initials: D
authors.lastname: Sawamura
authors.forename: Shigaku
authors.initials: S
authors.lastname: Ikeda
mesh_terms: D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype
chemical_list: C569053:COL7A1 protein, human; D024143:Collagen Type VII