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Article

Ferrochelatase gene mutations in erythropoietic protoporphyria: focus on liver disease.

Cellular and molecular biology (Noisy-le-Grand, France) - 1 Feb 2002

Chen Fu-Ping, Risheg Hiba, Liu Yunying, Bloomer Joseph

Abstract excerpt

A deficiency of ferrochelatase (FECH) activity underlies the excess accumulation of protoporphyrin that occurs in erythropoietic protoporphyria (EPP). In some patients, protoporphyrin accumulation causes liver damage that necessitates liver transplantation. The purpose of this study was to determine if specific mutations in the FECH gene are present in patients who develop liver disease. FECH cDNA and all 11...

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Source

Identifiers

PMID: 11929052

Genes

FECH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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