Article
Acute intermittent porphyria: laboratory diagnosis by molecular methods.
Clinics in laboratory medicine - 1 Dec 1995
Schreiber W E
Abstract excerpt
Acute intermittent porphyria is a neurologic disorder caused by a partial deficiency of porphobilinogen (PBG) deaminase, the third enzyme in the synthetic pathway for heme. The isolation and characterization of the gene for PBG deaminase has brought molecular techniques for diagnosing the disease...
Topics
- DNA Mutational Analysis
- Erythrocytes
- Genetic Linkage
- Genetic Testing
- Heme
- Humans
- Hydroxymethylbilane Synthase
- Mutation
- Polymorphism, Genetic
- Porphyria, Acute Intermittent
- Porphyrias, Hepatic
- Specimen Handling