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Article

The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH.

Nature genetics - 1 Jan 2002

Gouya Laurent, Puy Herve, Robreau Anne-Marie, Bourgeois Monique, Lamoril Jerôme, Da Silva Vasco, Grandchamp Bernard, Deybach Jean-Charles

Abstract excerpt

Erythropoietic protoporphyria (EPP) is an inherited disorder of heme biosynthesis caused by a partial deficiency of ferrochelatase (FECH, EC 4.99.1.1). EPP is transmitted as an autosomal dominant disorder with an incomplete penetrance. Using haplotype segregation analysis, we have identified an intronic single nucleotide polymorphism (SNP), IVS3-48T/C, that modulates the use of a constitutive aberrant acceptor...

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Source

Identifiers

PMID: 11753383
DOI: 10.1038/ng809

Genes

FECH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH.PMID 11753383Read ↗

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