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Article

Swiss patients with variegate porphyria have unique mutations.

Swiss medical weekly - 5 Aug 2006

Schneider-Yin Xiaoye, Minder Elisabeth I

Abstract excerpt

BACKGROUND: Variegate porphyria (VP), also known as South African porphyria, is a low-penetrance, autosomal dominant disorder as the result of a partial deficiency of protoporphyrinogen oxidase (PPOX). Clinically, VP is characterised by photosensitivity and neurovisceral attacks whereby the two s...

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Source

Identifiers

PMID: 16947091
DOI: 10.4414/smw.2006.11472

Genes

PPOX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16947091-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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