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Article

Molecular characterization of erythropoietic protoporphyria in South Africa.

The British journal of dermatology - 1 Jul 2008

Parker M, Corrigall A V, Hift R J, Meissner P N

Abstract excerpt

BACKGROUND: Erythropoietic protoporphyria (EPP) results from a partial deficiency of ferrochelatase (FECH). Clinical expression normally requires coinheritance of a common hypomorphic FECH allele (IVS3-48C) in trans to a deleterious (primary) FECH mutation. OBJECTIVES: To characterize South African subjects with EPP, by identification and assessment of FECH sequence variations, including the IVS3-48C...

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Source

Identifiers

PMID: 18460026
DOI: 10.1111/j.1365-2133.2008.08580.x

Genes

FECH

Provenance

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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