Molecular characterization of a ferrochelatase gene defect causing anomalous RNA splicing in erythropoietic protoporphyria.

doi:10.1111/1523-1747.ep12373073

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Article

Molecular characterization of a ferrochelatase gene defect causing anomalous RNA splicing in erythropoietic protoporphyria.

The Journal of investigative dermatology - 1 Apr 1994

Sarkany R P, Whitcombe D M, Cox T M

Abstract excerpt

Erythropoietic protoporphyria is an inherited disorder caused by deficient activity of the enzyme ferrochelatase. We have examined the ferrochelatase gene in an 11-year-old female with protoporphyria and have found that she is heterozygous for a mutation at a conserved residue in the exon 3 donor...

Topics

Base Sequence
Child
DNA, Complementary
Exons
Female
Ferrochelatase
Humans
Molecular Sequence Data
Mutation
Porphyria, Hepatoerythropoietic
Protoporphyria, Erythropoietic
RNA Splicing
Transcription, Genetic

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