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Article

Review: molecular pathogenesis of hepatic acute porphyrias.

Journal of gastroenterology and hepatology - 1 Nov 1996

Grandchamp B, Puy H, Lamoril J, Deybach J C, Nordmann Y

Abstract excerpt

The molecular cloning of cDNA and genes encoding enzymes of the haem biosynthetic pathway have permitted the genetic defects underlying acute intermittent porphyria (AIP) and hereditary coproporphyria to be unravelled. In AIP, many different gene abnormalities have been documented since 1989. The prevalence of specific defective alleles among AIP families depends on which human population is studied. Founder...

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Source

Identifiers

PMID: 8985829
DOI: 10.1111/j.1440-1746.1996.tb00035.x

Genes

AIP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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