title: Combination of novel premature termination codon and glycine substitution mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis bullosa.
authors.forename: T
authors.initials: T
authors.lastname: Masunaga
authors.forename: H
authors.initials: H
authors.lastname: Shimizu
authors.forename: Y
authors.initials: Y
authors.lastname: Takizawa
authors.forename: J
authors.initials: J
authors.lastname: Uitto
authors.forename: T
authors.initials: T
authors.lastname: Nishikawa
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D001483:Base Sequence / Q000235:genetics; D002648:Child; D003062:Codon / Q000235:genetics; D003094:Collagen / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005808:Genes, Recessive; D005998:Glycine / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation
chemical_list: D003062:Codon; D003094:Collagen; D005998:Glycine