Molecular abnormalities of coproporphyrinogen oxidase in patients with hereditary coproporphyria.

doi:10.1007/BF02110036

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Article

Molecular abnormalities of coproporphyrinogen oxidase in patients with hereditary coproporphyria.

Journal of bioenergetics and biomembranes - 1 Apr 1995

Grandchamp B, Lamoril J, Puy H

Abstract excerpt

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 s...

Topics

Amino Acid Sequence
Coproporphyrinogen Oxidase
DNA, Complementary
Humans
Molecular Biology
Molecular Sequence Data
Molecular Structure
Mutation
Porphyrias, Hepatic
Sequence Homology, Amino Acid

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