title: Glycine substitution mutations by different amino acids at the same codon in COL7A1 cause different modes of dystrophic epidermolysis bullosa inheritance.
authors.affiliation: Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku, Sapporo 060-8638, Japan. smartdai@med.hokudai.ac.jp
authors.forename: D
authors.initials: D
authors.lastname: Sawamura
authors.forename: Y
authors.initials: Y
authors.lastname: Mochitomi
authors.forename: T
authors.initials: T
authors.lastname: Kanzaki
authors.forename: H
authors.initials: H
authors.lastname: Nakamura
authors.forename: H
authors.initials: H
authors.lastname: Shimizu
mesh_terms: D019943:Amino Acid Substitution; D001483:Base Sequence; D003062:Codon; D024143:Collagen Type VII / Q000235:genetics*; D004252:DNA Mutational Analysis; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000473:pathology; D005998:Glycine / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D012867:Skin / Q000648:ultrastructure
chemical_list: D003062:Codon; D024143:Collagen Type VII; D005998:Glycine