title: Compound heterozygosity for premature termination codon and glycine substitution mutations in the COL7A1 gene in Korean siblings with a moderately severe phenotype of recessive dystrophic epidermolysis bullosa.
authors.forename: Jooyoung
authors.initials: J
authors.lastname: Kim
authors.forename: Soo-Chan
authors.initials: SC
authors.lastname: Kim
authors.forename: Kana
authors.initials: K
authors.lastname: Yasukawa
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Shimizu
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D018388:Codon, Terminator / Q000235:genetics*; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005808:Genes, Recessive; D005998:Glycine / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007723:Korea; D017354:Point Mutation; D035781:Siblings
chemical_list: D018388:Codon, Terminator; D024143:Collagen Type VII; D005998:Glycine