The low expression allele (IVS3-48C) of the ferrochelatase gene leads to low enzyme activity associated with erythropoietic protoporphyria.

Abstract

Erythropoietic protoporphyria (EPP) is an autosomal-dominant inherited disorder characterized biochemically by the excess accumulation and excretion of protoporphyrin, an intermediate precursor of heme biosynthesis. The enzyme abnormality that underlies protoporphyrin accumulation in EPP is a defect of ferrochelatase (FECH). Patients with EPP are clinically… (More)
DOI: 10.1007/s12185-010-0725-3

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