Article
Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene.
Biochemical and biophysical research communications - 16 Dec 1991
Lamoril J, Boulechfar S, de Verneuil H, Grandchamp B, Nordmann Y, Deybach J C
Abstract excerpt
The molecular basis of the ferrochelatase defect responsible for human Erythropoietic Protoporphyria (EPP), a usually autosomal dominant disease, was investigated in a family with an apparently homozygous patient. Two mutations of the ferrochelatase gene were identified by sequencing the proband's cDNA after in vitro amplification of the mRNA and subcloning of the amplified products. One mutation results from a G...
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