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Article

Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry.

The British journal of dermatology - 1 Feb 2012

van Tuyll van Serooskerken A M, Drögemöller B I, Te Velde K, Bladergroen R S, Steijlen P M, Poblete-Gutiérrez P, van Geel M, van Heerden C J, Warnich L, Frank J

Abstract excerpt

BACKGROUND: Variegate porphyria (VP) is due to a partial deficiency of protoporphyrinogen oxidase (PPOX), the seventh enzyme in the haem biosynthetic pathway. Clinically, VP is characterized by photosensitivity and acute neurovisceral attacks that can manifest separately or together in affected individuals. The disease is inherited in an autosomal dominant fashion with incomplete penetrance and PPOX gene...

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Identifiers

PMID: 21910705
DOI: 10.1111/j.1365-2133.2011.10606.x

Genes

PPOX

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry.PMID 21910705Read ↗

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