title: Premature termination codon mutations in the type VII collagen gene (COL7A1) underlie severe recessive dystrophic epidermolysis bullosa.
authors.affiliation: Department of Dermatology, Jefferson Medical College, Philadelphia, PA 19107, USA.
authors.forename: J
authors.initials: J
authors.lastname: Uitto
authors.forename: A
authors.initials: A
authors.lastname: Hovnanian
authors.forename: A M
authors.initials: AM
authors.lastname: Christiano
mesh_terms: D000818:Animals; D018388:Codon, Terminator; D003094:Collagen / Q000235:genetics*; D004820:Epidermolysis Bullosa / Q000235:genetics* / Q000378:metabolism; D005808:Genes, Recessive; D006239:Haplotypes; D006801:Humans; D009154:Mutation
chemical_list: D018388:Codon, Terminator; D003094:Collagen