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Article

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

The Journal of investigative dermatology - 1 Jul 2001

Yotsumoto S, Shimada S, Terasaki K, Taketani S, Kobayashi K, Saheki T, Kanzaki T

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 11442767
DOI: 10.1046/j.0022-202x.2001.01365.x

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A novel A(-4)-to-G acceptor splice site mutation leads to three bases insertion in ferrochelatase mRNA in a patient with erythropoietic protoporphyria.PMID 11442767Read ↗

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

Molecular characterization of a ferrochelatase gene defect causing anomalous RNA splicing in erythropoietic protoporphyria.Semantic proximity Read ↗

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

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

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

Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyria.Semantic proximity Read ↗

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

A novel splicing mutation in the ferrochelatase gene responsible for erythropoietic protoporphyria.Semantic proximity Read ↗

Variations in the length of poly-C and poly-T tracts in intron 3 of the human ferrochelatase gene.Semantic proximity Read ↗

A novel mutation in the ferrochelatase gene associated 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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