A novel splicing mutation in the ferrochelatase gene responsible for erythropoietic protoporphyria.

doi:10.1016/0925-4439(94)90101-5

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Article

A novel splicing mutation in the ferrochelatase gene responsible for erythropoietic protoporphyria.

Biochimica et biophysica acta - 21 Oct 1994

Wang X, Poh-Fitzpatrick M, Piomelli S

Abstract excerpt

An aberrant ferrochelatase mRNA lacking exon 7 was found in a patient with erythropoietic protoporphyria (EPP). The exon 7 skipping appears to result from a G >> A transition at position +5 of the donor site of intron 7 of the ferrochelatase gene. The patient is heterozygous for the mutation. Sin...

Topics

Alleles
Base Sequence
Exons
Family
Ferrochelatase
Heterozygote
Humans
Male
Molecular Sequence Data
Mutation
Porphyria, Erythropoietic
Protoporphyria, Erythropoietic
RNA, Messenger

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