Article
Rapid molecular diagnosis of erythropoietic protoporphyria among Swiss patients.
Clinical chemistry and laboratory medicine - 1 Oct 1998
Rüfenacht U B, Schneider-Yin X, Schäfer B W, Taketani S, Deybach J C, Minder E I
Abstract excerpt
Erythropoietic protoporphyria (EPP) is an autosomal dominant inherited disorder with incomplete penetrance. It is caused by partial deficiency of ferrochelatase, the last enzyme in the heme biosynthetic pathway. Measurement of protoporphyrin concentrations in red cells and feces, although suffici...
Topics
- Electrophoresis, Polyacrylamide Gel
- Genetic Carrier Screening
- Genetic Testing
- Humans
- Mutation
- Porphyria, Hepatoerythropoietic
- Switzerland