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Article

Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.

Journal of medical genetics - 1 Mar 1998

Frank J, Lam H, Zaider E, Poh-Fitzpatrick M, Christiano A M

Abstract excerpt

Variegate porphyria (VP) is an autosomal dominant disorder characterised by a partial defect in the activity of protoporphyrinogen oxidase (PPO), and has recently been genetically linked to the PPO gene on chromosome 1q22-23 (Z=6.62). In this study, we identified a mutation in the PPO gene in a patient with VP and two unaffected family members. The mutation consisted of a previously unreported T to C transition...

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Identifiers

PMID: 9541112
DOI: 10.1136/jmg.35.3.244
PMCID: PMC1051251

Genes

FAP
APC

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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Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.PMID 9541112Read ↗

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Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria.Semantic proximity Read ↗

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Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect.Semantic proximity Read ↗

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