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Article

Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.

American journal of human genetics - 1 Jan 2006

Gouya Laurent, Martin-Schmitt Caroline, Robreau Anne-Marie, Austerlitz Frederic, Da Silva Vasco, Brun Patrick, Simonin Sylvie, Lyoumi Said, Grandchamp Bernard, Beaumont Carole, Puy Herve, Deybach Jean-Charles

Abstract excerpt

Erythropoietic protoporphyria (EPP) is an inherited disorder of heme biosynthesis that results from a partial deficiency of ferrochelatase (FECH). Recently, we have shown that the inheritance of the common hypomorphic IVS3-48C allele trans to a deleterious mutation reduces FECH activity to below a critical threshold and accounts for the photosensitivity seen in patients. Rare cases of autosomal recessive...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 16385445
DOI: 10.1086/498620
PMCID: PMC1380220

Genes

FECH

Provenance

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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