Article
Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene.
Biochemical and biophysical research communications - 16 Dec 1991
Lamoril J, Boulechfar S, de Verneuil H, Grandchamp B, Nordmann Y, Deybach J C
Abstract excerpt
The molecular basis of the ferrochelatase defect responsible for human Erythropoietic Protoporphyria (EPP), a usually autosomal dominant disease, was investigated in a family with an apparently homozygous patient. Two mutations of the ferrochelatase gene were identified by sequencing the proband'...
Topics
- Adult
- Base Sequence
- DNA
- Erythropoiesis
- Ferrochelatase
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Nucleic Acid Hybridization
- Pedigree
- Polymerase Chain Reaction
- Porphyrias
- RNA, Messenger