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Article

Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband.

The Journal of investigative dermatology - 1 Apr 1998

Frank J, McGrath J, Lam H, Graham R M, Hawk J L, Christiano A M

Abstract excerpt

Homozygous variegate porphyria is a severe skin and neurologic disease manifesting in early infancy, and characterized by markedly reduced levels of the penultimate enzyme in the heme biosynthetic pathway, protoporphyrinogen oxidase. We investigated the molecular basis of variegate porphyria, usu...

Topics

Adult
Alleles
Amino Acid Sequence
Base Sequence
Exons
Female
Flavoproteins
Homozygote
Humans
Mitochondrial Proteins
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nucleic Acid Heteroduplexes

Oxidoreductases

Oxidoreductases Acting on CH-CH Group Donors

Porphyrias

Protoporphyrinogen Oxidase

Source

Identifiers

PMID: 9540991
DOI: 10.1046/j.1523-1747.1998.00148.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9540991-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband.PMID 9540991Read ↗

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Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation.Semantic proximity Read ↗

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

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Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria.Semantic proximity Read ↗

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Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile.Semantic proximity Read ↗

Genetic analysis of variegate porphyria (VP) in Italy: identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene.Semantic proximity Read ↗

Novel PPOX mutations in two variegate porphyria pedigreesSemantic proximity Read ↗

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

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