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Article

A systematic study of the clinical and biochemical expression of variegate porphyria in a large South African family.

The British journal of dermatology - 1 Aug 2004

Hift R J, Meissner D, Meissner P N

Abstract excerpt

BACKGROUND: Variegate porphyria (VP) is an autosomal dominant disorder associated with deficient haem synthesis. Recent reports indicate that the clinical penetrance of VP may have been overestimated in studies which predated the availability of DNA-based testing for VP. OBJECTIVES: To undertake a study specifically designed to assess the clinical and biochemical penetrance of VP in a kindred characterized by...

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PMID: 15327556
DOI: 10.1111/j.1365-2133.2004.06120.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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