title: Splicing mutation in the COL7A1 gene mRNA exon 71 in a female patient with pretibial epidermolysis bullosa.
authors.affiliation: Department of Dermatology, St Marianna University School of Medicine, Kawasaki, Japan.
authors.forename: Tomoko
authors.initials: T
authors.lastname: Kitazawa
authors.forename: Tamihiro
authors.initials: T
authors.lastname: Kawakami
authors.forename: Maya
authors.initials: M
authors.lastname: Matsuoka
authors.forename: Satoko
authors.initials: S
authors.lastname: Kimura
authors.forename: Yoshinao
authors.initials: Y
authors.lastname: Soma
authors.forename: Hajime
authors.initials: H
authors.lastname: Nakano
mesh_terms: D000328:Adult; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D009154:Mutation; D022821:RNA Splice Sites
chemical_list: C569053:COL7A1 protein, human; D024143:Collagen Type VII; D022821:RNA Splice Sites