Article
Molecular and biochemical data on some glucose-6-phosphate dehydrogenase variants from southern Sardinia.
Haematologica - 1 Jan 2000
Frigerio R, Sole G, Lovicu M, Passiu G
Abstract excerpt
BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD; E.C.1.1.1.49) deficiency is the most common human enzymopathy; nearly 400 different biochemical variants of the enzyme have been described. Sardinia is the Italian region with the highest frequency of this defect. METHODS: We examined genomic DNA of 16 subjects with G6PD Mediterranean, 2 with G6PD Athens-like, 1 with G6PD Ferrara 2 (all as biochemically...
Topics
- Genetic Variation
- Glucosephosphate Dehydrogenase
- Glucosephosphate Dehydrogenase Deficiency
- Humans
- Italy
- Male
- Phenotype