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Article

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

Clinical chemistry and laboratory medicine - 1 Jan 2009

Li Chumei, Di Pierro Elena, Brancaleoni Valentina, Cappellini Maria Domenica, Steensma David P

Abstract excerpt

BACKGROUND: Erythropoietic protoporphyria (EPP) is known to be inherited in both autosomal dominant and recessive manners. A deleterious mutation in conjunction with a polymorphic wild type allele underlies the molecular basis of the dominant type. METHODS: We report a patient with EPP who was found to have a novel large deletion [c.1-9628_67+2871del12566 bp] and three polymorphisms [c.1-251A>G, c.68-23C>T and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymerase Chain Reaction

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Share to Protoporphyria, Erythropoietic

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Source

Identifiers

PMID: 19055472
DOI: 10.1515/CCLM.2009.010

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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