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Article

A novel mutation in the ferrochelatase gene associated with erythropoietic protoporphyria.

British journal of haematology - 1 Jul 1996

Imoto S, Tanizawa Y, Sato Y, Kaku K, Oka Y

Abstract excerpt

Erythropoietic protoporphyria (EPP) is a hereditary disorder caused by mutations of the ferrochelatase gene. We investigated a Japanese patient with a dominant form of erythropoietic protoporphyria for a ferrochelatase mutation. Sequence analysis of the proband's ferrochelatase cDNA revealed a T to C point mutation at nucleotide 557. This mutation resulted in the replacement of Ile by Thr at amino acid position...

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Identifiers

PMID: 8757534
DOI: 10.1046/j.1365-2141.1996.d01-1771.x

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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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