Article
Denaturing gradient gel electrophoresis for rapid detection of latent carriers of a subtype of acute intermittent porphyria with normal erythrocyte porphobilinogen deaminase activity.
Clinical chemistry - 1 Jan 1992
Bourgeois F, Gu X F, Deybach J C, Te Velde M P, de Rooij F, Nordmann Y, Grandchamp B
Abstract excerpt
Acute intermittent porphyria is an autosomal dominant disorder defined by a partial deficiency of porphobilinogen deaminase (EC 4.3.1.8). Clinical manifestations of the disease are characterized by acute attacks of neurological dysfunction often linked to environmental factors. Early diagnosis of gene carriers is important in the prevention of attacks and is usually achieved by determining the porphobilinogen...
Topics
- Base Sequence
- DNA
- Electrophoresis, Polyacrylamide Gel
- Erythrocytes
- Genetic Carrier Screening
- Humans
- Hydroxymethylbilane Synthase
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction