Article
Haplotype analysis of families with erythropoietic protoporphyria and novel mutations of the ferrochelatase gene.
The Journal of investigative dermatology - 1 Jul 1999
Wang X, Yang L, Kurtz L, Lichtin A, DeLeo V A, Bloomer J, Poh-Fitzpatrick M B
Abstract excerpt
Ferrochelatase, the enzyme that catalyzes the terminal step in the heme biosynthetic pathway, is the site of the defect in the human inherited disease erythropoietic protoporphyria. Molecular genetic studies have shown that the majority of erythropoietic protoporphyria cases are transmitted in dominant fashion and that mutations underlying erythropoietic protoporphyria are heterogeneous. We performed haplotype...
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