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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. Since the patient's paternal half-brother (not available for testing) also has clinically obvious EPP, their father...

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PMID: 7918679
DOI: 10.1016/0925-4439(94)90101-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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A novel splicing mutation in the ferrochelatase gene responsible for erythropoietic protoporphyria.PMID 7918679Read ↗

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