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Article

Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation.

Blood - 15 Mar 1999

Gouya L, Puy H, Lamoril J, Da Silva V, Grandchamp B, Nordmann Y, Deybach J C

Abstract excerpt

Erythropoietic protoporphyria (EPP) is a rare autosomal dominant disorder of heme biosynthesis characterized by partial decrease in ferrochelatase (FECH; EC 4.99.1.1) activity with protoporphyrin overproduction and consequent painful skin photosensitivity and rarely liver disease. EPP is normally...

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Source

Identifiers

PMID: 10068685

Genes

FECH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-10068685-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation.PMID 10068685Read ↗

New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care.Semantic proximity Read ↗

Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.Semantic proximity Read ↗

A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria.Semantic proximity Read ↗

[Inheritance in erythropoietic protoporphyria].Semantic proximity Read ↗

Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease.Semantic proximity Read ↗

Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.Semantic proximity Read ↗

Biochemical abnormality in erythropoietic protoporphyria: cause and consequences.Semantic proximity Read ↗

Genotypic determinants of phenotype in North American patients with erythropoietic protoporphyria.Semantic proximity Read ↗

The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH.Semantic proximity Read ↗

Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance.Semantic proximity Read ↗

Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele.Semantic proximity Read ↗

Erythropoietic protoporphyria: a family study and report of a novel mutation in the FECH gene.Semantic proximity Read ↗

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