Article
Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis.
Human mutation - 1 Jan 1997
Nissen H, Petersen N E, Mustajoki S, Hansen T S, Mustajoki P, Kauppinen R, Hørder M
Abstract excerpt
Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease of heme metabolism caused by mutations in the hydroxymethylbilane synthase gene. Diagnosing AIP during an acute attack using traditional biochemical markers is unproblematic, but it can be difficult to obtain a definite...
Topics
- DNA Mutational Analysis
- Electrophoresis, Polyacrylamide Gel
- Exons
- Genetic Testing
- Heterozygote
- Humans
- Hydroxymethylbilane Synthase
- Introns
- Mutation
- Polymerase Chain Reaction
- Porphyria, Acute Intermittent
- Sensitivity and Specificity