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Article

A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma.

The British journal of dermatology - 1 Jun 2009

Méndez M, Poblete-Gutiérrez P, Morán-Jiménez M-J, Rodriguez M-E, Garrido-Astray M-C, Fontanellas A, Frank J, de Salamanca R E

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Share to Consanguinity
Share to DNA Mutational Analysis
Share to Ferrochelatase
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Keratoderma, Palmoplantar

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Share to Protoporphyria, Erythropoietic

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Identifiers

PMID: 19298273
DOI: 10.1111/j.1365-2133.2009.09084.x

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A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma.PMID 19298273Read ↗

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 ↗

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

Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance.Semantic proximity Read ↗

The molecular genetics of erythropoietic protoporphyria.Semantic proximity Read ↗

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

Erythropoietic protoporphyriaSemantic proximity Read ↗

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

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

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

Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.Semantic proximity Read ↗

Four novel mutations in the ferrochelatase gene among erythropoietic protoporphyria patients.Semantic proximity Read ↗

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