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Article

Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria.

Clinical genetics - 1 Aug 2003

Wiman A, Harper P, Floderus Y

Abstract excerpt

Variegate porphyria (VP) is an autosomal-dominant disorder that is caused by inheritance of a partial deficiency of the enzyme protoporphyrinogen oxidase (EC 1.3.3.4). It is characterized by cutaneous photosensitivity and/or various neurological manifestations. Protoporphyrinogen oxidase catalyses the penultimate step of haem biosynthesis, and mutations in the PPOX gene have been coupled to VP. In the present...

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Source

Identifiers

PMID: 12859407
DOI: 10.1034/j.1399-0004.2003.00116.x

Genes

PPOX

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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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