title: Novel COL7A1 splice site mutation in severe generalized recessive dystrophic epidermolysis bullosa.
authors.affiliation: Department of Dermatology, Gangnam Severance Hospital, Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: In Kyung
authors.initials: IK
authors.lastname: Jeon
authors.forename: Song-Ee
authors.initials: SE
authors.lastname: Kim
authors.forename: Soo-Chan
authors.initials: SC
authors.lastname: Kim
mesh_terms: D001483:Base Sequence; D018389:Codon, Nonsense; D024143:Collagen Type VII / Q000172:deficiency / Q000235:genetics*; D004252:DNA Mutational Analysis; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D022821:RNA Splice Sites
chemical_list: C569053:COL7A1 protein, human; D018389:Codon, Nonsense; D024143:Collagen Type VII; D022821:RNA Splice Sites