title: A recurrent 'hot spot' glycine substitution mutation, G2043R in COL7A1, induces dominant dystrophic epidermolysis bullosa associated with intracytoplasmic accumulation of pro-collagen VII.
authors.affiliation: Department of Dermatology, Hokkaido University Graduate School of Medicine, N15W7, Kita-ku, Sapporo 060-8638, Japan. Electronic address: nishie@med.hokudai.ac.jp.
authors.forename: Wataru
authors.initials: W
authors.lastname: Nishie
authors.affiliation: Department of Dermatology, Hokkaido University Graduate School of Medicine, N15W7, Kita-ku, Sapporo 060-8638, Japan.
authors.forename: Ken
authors.initials: K
authors.lastname: Natsuga
authors.affiliation: Department of Dermatology, Hokkaido University Graduate School of Medicine, N15W7, Kita-ku, Sapporo 060-8638, Japan.
authors.forename: Hideki
authors.initials: H
authors.lastname: Nakamura
authors.affiliation: Department of Dermatology, Hokkaido University Graduate School of Medicine, N15W7, Kita-ku, Sapporo 060-8638, Japan.
authors.forename: Takamasa
authors.initials: T
authors.lastname: Ito
authors.affiliation: Department of Dermatology, Hokkaido University Graduate School of Medicine, N15W7, Kita-ku, Sapporo 060-8638, Japan.
authors.forename: Ellen
authors.initials: E
authors.lastname: Toyonaga
authors.affiliation: Department of Dermatology, Hokkaido P.W.F.A.C. Obihiro-Kosei General Hospital, W6S8, Obihiro 080-0016, Japan.
authors.forename: Hidetsugu
authors.initials: H
authors.lastname: Sato
authors.affiliation: Department of Dermatology, Hokkaido University Graduate School of Medicine, N15W7, Kita-ku, Sapporo 060-8638, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Shimizu
mesh_terms: D019943:Amino Acid Substitution; D002478:Cells, Cultured; D024143:Collagen Type VII / Q000235:genetics* / Q000378:metabolism; D003593:Cytoplasm / Q000378:metabolism* / Q000473:pathology; D004252:DNA Mutational Analysis; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005347:Fibroblasts / Q000378:metabolism* / Q000473:pathology; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D005998:Glycine; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010641:Phenotype; D011347:Procollagen / Q000235:genetics* / Q000378:metabolism; D012867:Skin / Q000378:metabolism* / Q000473:pathology
chemical_list: C569053:COL7A1 protein, human; D024143:Collagen Type VII; D011347:Procollagen; D005998:Glycine