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Article

DNA-based diagnosis of erythropoietic protoporphyria in two families and the frequency of a low-expression FECH allele in a Chinese population.

Clinica chimica acta; international journal of clinical chemistry - 1 Feb 2009

Lau Kin-Chong, Lam Ching-Wan, Fong Bonnie, Siu Tak-Shing, Tam Sidney

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 18976643
DOI: 10.1016/j.cca.2008.09.031

Genes

FECH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

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Research trail→

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DNA-based diagnosis of erythropoietic protoporphyria in two families and the frequency of a low-expression FECH allele in a Chinese population.PMID 18976643Read ↗

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

Identification of a ferrochelatase mutation in a Chinese family with erythropoietic protoporphyria.Semantic proximity Read ↗

Human gene mutations. Gene symbol: FECH. Disease: Porphyria, erythropoietic.Semantic proximity Read ↗

Digital PCR (dPCR) analysis reveals that the homozygous c.315-48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP).Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: FECH. Disease: porphyria, erythropoietic.Semantic proximity Read ↗

New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care.Semantic proximity Read ↗

A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria.Semantic proximity Read ↗

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

Allele variation in the ferrochelatase gene in a Chinese pedigree of erythropoietic protoporphyriaSemantic proximity Read ↗

Functional associations of genetic variants involved in the clinical manifestation of erythropoietic protoporphyria in the Argentinean population.Semantic proximity Read ↗

Erythropoietic protoporphyria: a family study and report of a novel mutation in the FECH gene.Semantic proximity Read ↗

Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria.Semantic proximity Read ↗

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