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Article

Genetic analysis of the ferrochelatase gene in eight Japanese patients from seven families with erythropoietic protoporphyria.

The Journal of dermatology - 1 Sept 2006

Saruwatari Hiroshi, Ueki Yuri, Yotsumoto Shinichi, Shimada Tokihiko, Fukumaru Seita, Kanekura Takuro, Kanzaki Tamotsu

Abstract excerpt

A decrease in the activity of ferrochelatase (FECH; EC 4.99.1.1), the terminal enzyme of the heme biosynthetic pathway, results in erythropoietic protoporphyria (EPP; MIM 177000). We analyzed the FECHgene in eight Japanese EPP patients from seven non-consanguineous families and found two distinct...

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Source

Identifiers

PMID: 16958804
DOI: 10.1111/j.1346-8138.2006.00140.x

Genes

FECH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16958804-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Genetic analysis of the ferrochelatase gene in eight Japanese patients from seven families with erythropoietic protoporphyria.PMID 16958804Read ↗

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