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Article

Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.

American journal of human genetics - 1 Jun 1997

Puy H, Deybach J C, Lamoril J, Robreau A M, Da Silva V, Gouya L, Grandchamp B, Nordmann Y

Abstract excerpt

Acute intermittent porphyria (AIP) is the major autosomal dominant form of acute hepatic porphyrias. The disease is due to mutations in the gene encoding for porphobilinogen (PBG) deaminase and is characterized by life-threatening neurovisceral attacks, often precipitated by drugs, fasting, cyclical hormonal changes, or infectious diseases. This report describes a prospective study on the molecular epidemiology...

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Identifiers

PMID: 9199558
DOI: 10.1086/515455
PMCID: PMC1716106

Genes

AIP

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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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