A novel mutation in erythropoietic protoporphyria:...[Biochim Biophys Acta. 1993]

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1: Biochim Biophys Acta. 1993 Apr 30;1181(2):198-200.Links

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

Wang X, Poh-Fitzpatrick M, Carriero D, Ostasiewicz L, Chen T, Taketani S, Piomelli S.

Division of Pediatric Hematology, Columbia University College of Physicians and Surgeons, New York, NY 10032.

An aberrant ferrochelatase mRNA lacking exon 10 was found in a patient with erythropoietic protoporphyria (EPP). In her genomic DNA an A-->T transversion at position -3 of the donor site of intron 10 appeared to be responsible for the exon skipping. Both the patient and her sister were heterozygous for this mutation.

PMID: 8481408 [PubMed - indexed for MEDLINE]

A novel splicing mutation in the ferrochelatase gene responsible for erythropoietic protoporphyria. [Biochim Biophys Acta. 1994]
Systematic screening for RNA with skipped exons--splicing mutations of the ferrochelatase gene. [Biochim Biophys Acta. 1995]
Screening for ferrochelatase mutations: molecular heterogeneity of erythropoietic protoporphyria. [Biochim Biophys Acta. 1994]
Molecular characterization of a ferrochelatase gene defect causing anomalous RNA splicing in erythropoietic protoporphyria. [J Invest Dermatol. 1994]
Human erythropoietic protoporphyria: identification of a mutation at the splice donor site of intron 7 causing exon 7 skipping of the ferrochelatase gene. [Hum Mol Genet. 1993]
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A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing.

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