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Article

A novel splicing mutation and haplotype analysis of the FECH gene in a Chinese family with erythropoietic protoporphyria.

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Jun 2010

Ma J, Xiao S, An J, Wang X, Xu Q, Dong Y, Feng Y, Wang J

Abstract excerpt

BACKGROUND: Erythropoietic protoporphyria (EPP) is a rare autosomal dominant disorder of haeme biosynthesis resulting from a partial decrease in ferrochelatase (FECH) activity leading to excessive accumulation of protoporphyrin. Clinical manifestation normally requires coinheritance of a common hypomorphic FECH allele and a deleterious FECH mutation. OBJECTIVE: The aim of this study was to characterize the...

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Source

Identifiers

PMID: 19888946
DOI: 10.1111/j.1468-3083.2009.03471.x

Genes

FECH

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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