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Article

Exonic deletions as a cause of erythropoietic protoporphyria.

Annals of clinical biochemistry - 1 May 2006

Wood Lisa H, Whatley Sharon D, McKenna Kevin, Badminton Michael N

Abstract excerpt

Erythropoietic protoporphyria (EPP) is an inherited disorder that results from partial deficiency of ferrochelatase (FECH), the terminal enzyme of haem biosynthesis. Current methods that examine the exons and their flanking regions of the FECH gene fail to identify mutations in about one in seven of families with EPP. The presence in some families of intragenic deletions that are not identifiable by current...

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Identifiers

PMID: 16704762
DOI: 10.1258/000456306776865160

Genes

FECH

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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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Exonic deletions as a cause of erythropoietic protoporphyria.PMID 16704762Read ↗

Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria.Semantic proximity Read ↗

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

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

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The molecular genetics of erythropoietic protoporphyria.Semantic proximity Read ↗

A 10376 bp deletion of FECH gene responsible for erythropoietic protoporphyria.Semantic proximity Read ↗

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