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A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing.
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]
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Cited by 5 PubMed Central articles
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Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.
Buratti E, Chivers M, Královicová J, Romano M, Baralle M, Krainer AR, Vorechovsky I.
Nucleic Acids Res. 2007; 35(13):4250-63. Epub 2007 Jun 18.
[Nucleic Acids Res. 2007]
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ReviewTheodore Woodward Award. Pathogenesis of biochemical abnormalities in protoporphyria.
Bloomer JR, Poh-Fitzpatrick MB.
Trans Am Clin Climatol Assoc. 2000; 111:245-56; discussion 256-7.
[Trans Am Clin Climatol Assoc. 2000]
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Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantation.
Bloomer J, Bruzzone C, Zhu L, Scarlett Y, Magness S, Brenner D.
J Clin Invest. 1998 Jul 1; 102(1):107-14.
[J Clin Invest. 1998]
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