title: A Japanese case of de novo dominant dystrophic epidermolysis bullosa.
abstract: We report a Japanese case of dominant dystrophic epidermolysis bullosa with a de novo mutation in the triple-helical domain of the type VII collagen. Mutation detection revealed a glycine --> aspartic acid substitution at amino acid position 2012 in exon 73 (G2012D). This previously unreported mutation underlies a clinical phenotype of moderately severe, localized skin blistering.
authors.affiliation: Department of Dermatology, Juntendo University School of Medicine, Tokyo Japan. matsuba@med.juntendo.ac.jp
authors.forename: S
authors.initials: S
authors.lastname: Matsuba
authors.forename: Y
authors.initials: Y
authors.lastname: Suga
authors.forename: N
authors.initials: N
authors.lastname: Mayuzumi
authors.forename: S
authors.initials: S
authors.lastname: Ikeda
authors.forename: H
authors.initials: H
authors.lastname: Ogawa
mesh_terms: D002675:Child, Preschool; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D010375:Pedigree; D017354:Point Mutation
chemical_list: D024143:Collagen Type VII