Article
Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyria.
The Journal of investigative dermatology - 1 Sept 1998
Gouya L, Schneider-Yin X, Rüfenacht U, Herrero C, Lecha M, Mascaro J M, Puy H, Deybach J C, Minder E I
Abstract excerpt
Erythropoietic protoporphyria is a hereditary disorder of porphyrin metabolism caused by mutations in the ferrochelatase gene. Ferrochelatase catalyzes the chelation of ferrous iron into protoporphyrin IX to form heme. Mutation analysis was performed in four Spanish erythropoietic protoporphyria...
Topics
- Electrophoresis, Polyacrylamide Gel
- Female
- Ferrochelatase
- Frameshift Mutation
- Humans
- Male
- Mutation
- Pedigree
- Porphyria, Hepatoerythropoietic
- Sequence Analysis, DNA
- Spain