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Article

Examination of ferrochelatase mutations that cause erythropoietic protoporphyria.

Blood - 15 May 1998

Sellers V M, Dailey T A, Dailey H A

Abstract excerpt

Ferrochelatase (E.C. 4.99.1.1), the enzyme that catalyzes the terminal step in the heme biosynthetic pathway, is the site of defect in the human inherited disease erythropoietic protoporphyria (EPP). Previously it has been demonstrated that patients with EPP may have missense mutations leading to amino acid substitutions, early chain termination, or exon deletions. While it has been clearly demonstrated that two...

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PMID: 9573038

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Examination of ferrochelatase mutations that cause erythropoietic protoporphyria.PMID 9573038Read ↗

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A novel ferrochelatase gene mutation (IVS1-2 A-->C) in erythropoietic protoporphyria.Semantic proximity Read ↗

Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene.Semantic proximity Read ↗

Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.Semantic proximity Read ↗

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