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Article

A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing.

Biochimica et biophysica acta - 30 Apr 1993

Wang X, Poh-Fitzpatrick M, Carriero D, Ostasiewicz L, Chen T, Taketani S, Piomelli S

Abstract excerpt

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 heterozygo...

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Identifiers

PMID: 8481408
DOI: 10.1016/0925-4439(93)90112-e

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-8481408-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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