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Article

Genotypic determinants of phenotype in North American patients with erythropoietic protoporphyria.

Molecular genetics and metabolism - 1 Jan 2000

Risheg Hiba, Chen Fu-Ping, Bloomer Joseph R

Abstract excerpt

Erythropoietic protoporphyria (EPP) is characterized by excess accumulation of protoporphyrin, which is due to deficient activity of the enzyme ferrochelatase (FECH). This results in photosensitivity and in some patients liver disease which may necessitate liver transplantation. The aim of this s...

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Source

Identifiers

PMID: 14567969
DOI: 10.1016/j.ymgme.2003.07.001

Genes

FECH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14567969-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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