title: Localised Dominant Dystrophic Epidermolysis Bullosa with a Novel de Novo Mutation in COL7A1 Diagnosed by Next-generation Sequencing.
authors.affiliation: Department of Dermatology, Hyogo College of Medicine, Nishinomiya, Hyogo, Japan.
authors.forename: Makoto
authors.initials: M
authors.lastname: Nagai
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Nagai
authors.forename: Chiharu
authors.initials: C
authors.lastname: Tominaga
authors.forename: Yoshiko
authors.initials: Y
authors.lastname: Sakaguchi
authors.forename: Orie
authors.initials: O
authors.lastname: Jitsukawa
authors.forename: Noriko
authors.initials: N
authors.lastname: Ohgo
authors.forename: Chikako
authors.initials: C
authors.lastname: Nishigori
authors.forename: Kiyofumi
authors.initials: K
authors.lastname: Yamanishi
mesh_terms: D001707:Biopsy, Needle; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D005260:Female; D005799:Genes, Dominant; D020022:Genetic Predisposition to Disease; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D009154:Mutation; D017422:Sequence Analysis, DNA; D012720:Severity of Illness Index
chemical_list: C569053:COL7A1 protein, human; D024143:Collagen Type VII