Article
A molecular defect in human protoporphyria.
American journal of human genetics - 1 Jun 1992
Brenner D A, Didier J M, Frasier F, Christensen S R, Evans G A, Dailey H A
Abstract excerpt
Protoporphyria is generally an autosomal dominant disease that is characterized clinically by photosensitivity and hepatobiliary disease and that is characterized biochemically by elevated protoporphyrin levels. The enzymatic activity of ferrochelatase, which catalyzes the last step in the heme b...
Topics
- Amino Acid Sequence
- Base Sequence
- Blotting, Northern
- Cell Line
- Chromosome Banding
- Chromosome Mapping
- Chromosomes, Human, Pair 18
- DNA
- Ferrochelatase
- Humans
- Hybrid Cells
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Polymerase Chain Reaction
- Porphyrias
- Protoporphyrins
- RNA