Molecular abnormalities of coproporphyrinogen oxidase in patients with hereditary coproporphyria.
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.
Grandchamp
B
B
INSERM U409 et Association Claude Bernard, Faculté Xavier Bichat, Paris, France.
Lamoril
J
J
Puy
H
H
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
D018076:DNA, Complementary; D003304:Coproporphyrinogen Oxidase