Article
G6PD Ferrara I has the same two mutations as G6PD A(-) but a distinct biochemical phenotype.
Human genetics - 1 Feb 1994
Cappellini M D, Sampietro M, Toniolo D, Carandina G, Martinez di Montemuros F, Tavazzi D, Fiorelli G
Abstract excerpt
The cloning and sequencing of the normal glucose-6-phosphate dehydrogenase (G6PD) gene has led to the study of the molecular defects that determine enzymatic variants. In this paper, we describe the mutations responsible for the Ferrara I variant in an Italian man with a family history of favism,...
Topics
- Cloning, Molecular
- DNA Mutational Analysis
- Exons
- Favism
- Glucosephosphate Dehydrogenase
- Glucosephosphate Dehydrogenase Deficiency
- Humans
- Male
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Polymorphism, Restriction Fragment Length