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Article

Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review.

Journal of Zhejiang University. Science. B - 1 Jan 2000

Long Zhang-Biao, Wang Yong-Wei, Yang Chen, Liu Gang, Du Ya-Li, Nie Guang-Jun, Chang Yan-Zhong, Han Bing

Abstract excerpt

Erythropoietic protoporphyria (EPP), an autosomal dominant disease, is caused by partial deficiency of ferrochelatase (FECH), which catalyzes the terminal step of heme biosynthesis because of loss-of-function mutations in the FECH gene. To date, only a few cases have been described in Asia. In this study, we describe the clinical features of two Chinese patients with EPP, with diagnosis confirmed by the increase...

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Identifiers

PMID: 27704751
DOI: 10.1631/jzus.B1600085
PMCID: PMC5064175

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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