title: Molecular abnormalities of coproporphyrinogen oxidase in patients with hereditary coproporphyria.
abstract: Genetic defects of coproporphyrinogen oxidase (CPO) lead to hereditary coproporphyria, an inherited autosomal dominant porphyria. The recent cloning of human cDNAs and of the gene encoding CPO permits deducing the primary structure of the CPO protein and elucidating the molecular basis of HC in some families.
authors.affiliation: INSERM U409 et Association Claude Bernard, Faculté Xavier Bichat, Paris, France.
authors.forename: B
authors.initials: B
authors.lastname: Grandchamp
authors.forename: J
authors.initials: J
authors.lastname: Lamoril
authors.forename: H
authors.initials: H
authors.lastname: Puy
mesh_terms: D000595:Amino Acid Sequence; D003304:Coproporphyrinogen Oxidase / Q000737:chemistry / Q000235:genetics*; D018076:DNA, Complementary / Q000235:genetics; D006801:Humans; D008967:Molecular Biology; D008969:Molecular Sequence Data; D015394:Molecular Structure; D009154:Mutation; D017094:Porphyrias, Hepatic / Q000201:enzymology* / Q000235:genetics*; D017386:Sequence Homology, Amino Acid
chemical_list: D018076:DNA, Complementary; D003304:Coproporphyrinogen Oxidase