Abstract
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.
Publication types
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Case Reports
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Aged
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Base Sequence
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Exons
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Female
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Ferrochelatase / genetics*
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Gene Deletion
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Heterozygote
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Humans
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Molecular Sequence Data
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Mutation
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Polymerase Chain Reaction
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Porphyria, Erythropoietic / diagnosis
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Porphyria, Erythropoietic / genetics*
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RNA Splicing*
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RNA, Messenger / analysis
Substances
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RNA, Messenger
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Ferrochelatase