Article
Identification of a single base change in a new human mutant glucose-6-phosphate dehydrogenase gene by polymerase-chain-reaction amplification of the entire coding region from genomic DNA.
The Biochemical journal - 1 Oct 1990
Poggi V, Town M, Foulkes N S, Luzzatto L
Abstract excerpt
We report the characterization at the molecular level of a mutant glucose-6-phosphate dehydrogenase (G6PD) gene in a Greek boy who presented with a chronic non-spherocytic haemolytic anaemia. In order to identify the mutation from a small amount of patient material, we adopted an approach which b...
Topics
- Amino Acid Sequence
- Anemia, Hemolytic
- Child, Preschool
- Cloning, Molecular
- DNA
- DNA Probes
- Glucosephosphate Dehydrogenase
- Glucosephosphate Dehydrogenase Deficiency
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Nucleic Acid Hybridization
- Polymerase Chain Reaction