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Article

A novel ferrochelatase gene mutation (IVS1-2 A-->C) in erythropoietic protoporphyria.

The Journal of investigative dermatology - 1 Aug 2003

Lew Wook

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PMID: 12880438
DOI: 10.1046/j.1523-1747.2003.12375.x

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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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A novel ferrochelatase gene mutation (IVS1-2 A-->C) in erythropoietic protoporphyria.PMID 12880438Read ↗

Erythropoietic protoporphyria: a new mutation responsible for exon skipping in the human ferrochelatase gene.Semantic proximity Read ↗

New missense mutation in the human ferrochelatase gene in a family with erythropoietic protoporphyria: functional studies and correlation of genotype and phenotype.Semantic proximity Read ↗

The molecular genetics of erythropoietic protoporphyria.Semantic proximity Read ↗

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

A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma.Semantic proximity Read ↗

A novel mutation in the ferrochelatase gene associated with erythropoietic protoporphyria.Semantic proximity Read ↗

A novel A(-4)-to-G acceptor splice site mutation leads to three bases insertion in ferrochelatase mRNA in a patient with erythropoietic protoporphyria.Semantic proximity Read ↗

Erythropoietic protoporphyria: identification of novel mutations in the ferrochelatase gene and comparison of biochemical markers versus molecular analysis as diagnostic strategies.Semantic proximity Read ↗

Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria.Semantic proximity Read ↗

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

Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease.Semantic proximity Read ↗

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

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