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Article

Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms.

Human molecular genetics - 1 Mar 1994

Martasek P, Nordmann Y, Grandchamp B

Abstract excerpt

Coproporphyrinogen oxidase is a mitochondrial heme-biosynthetic enzyme that converts coproporphyrinogen to protoporphyrinogen. Inherited deficiency of this enzyme causes the human genetic disease hereditary coproporphyria. Recently, we isolated, sequenced and expressed the cDNA encoding human cop...

Topics

Amino Acid Sequence
Arginine
Base Sequence
Coproporphyrinogen Oxidase
DNA
Homozygote
Humans
Introns
Molecular Sequence Data
Phenotype
Polymorphism, Genetic
Porphyrias, Hepatic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Tryptophan

Source

Identifiers

PMID: 8012360
DOI: 10.1093/hmg/3.3.477

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8012360-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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