Article
Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.
American journal of human genetics - 1 Jun 1998
Rüfenacht U B, Gouya L, Schneider-Yin X, Puy H, Schäfer B W, Aquaron R, Nordmann Y, Minder E I, Deybach J C
Abstract excerpt
Erythropoietic protoporphyria (EPP; MIM 177000) is an inherited disorder caused by partial deficiency of ferrochelatase (FECH), the last enzyme in the heme biosynthetic pathway. In EPP patients, the FECH deficiency causes accumulation of free protoporphyrin in the erythron, associated with a pain...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Animals
- Child
- DNA Mutational Analysis
- Female
- Ferrochelatase
- France
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree
- Porphyria, Hepatoerythropoietic