Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria.

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Article

Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria.

American journal of medical genetics - 27 Aug 1998

Frank J, Jugert F K, Breitkopf C, Goerz G, Merk H F, Christiano A M

Abstract excerpt

The porphyrias represent a heterogeneous group of disorders of porphyrin or porphyrin-precursor metabolism, resulting from the inherited or acquired dysregulation of one of the eight enzymes in the porphyrin-heme biosynthetic pathway. Variegate porphyria, one of the acute hepatic porphyrias, is c...

Topics

Adult
Animals
Female
Flavoproteins
Humans
Male
Mice
Middle Aged
Mitochondrial Proteins
Mutation
Oxidoreductases
Oxidoreductases Acting on CH-CH Group Donors
Pedigree
Porphyrias, Hepatic
Protoporphyrinogen Oxidase
Recurrence

Source

Open in PubMed

Identifiers

PMID: 9738863

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9738863-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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