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Article

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

The Journal of investigative dermatology - 1 Sept 1998

Remenyik E, Lanyon G W, Horkay I, Paragh G, Wikonkál N, Kósa A, Moore M R

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PMID: 9740256
DOI: 10.1046/j.1523-1747.1998.00300.x

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Erythropoietic protoporphyria: a new mutation responsible for exon skipping in the human ferrochelatase gene.PMID 9740256Read ↗

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Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene.Semantic proximity Read ↗

A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing.Semantic proximity Read ↗

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

Examination of ferrochelatase mutations that cause erythropoietic protoporphyria.Semantic proximity Read ↗

Human ferrochelatase: a novel mutation in patients with erythropoietic protoporphyria and an isoform caused by alternative splicing.Semantic proximity Read ↗

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

The molecular genetics of erythropoietic protoporphyria.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 ↗

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

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