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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 symptoms can appear separately or together in patients. VP is little known in Switzerland. In this study, we report a...

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Identifiers

PMID: 16947091
DOI: 10.4414/smw.2006.11472

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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