Article
Biochemical and molecular characterization of a new sporadic glucose-6-phosphate dehydrogenase variant described in Italy: G6PD Modena.
British journal of haematology - 1 May 1994
Cappellini M D, Sampietro M, Toniolo D, Carandina G, Pittalis S, Martinez di Montemuros F, Tavazzi D, Fiorelli G
Abstract excerpt
A new glucose-6-phosphate dehydrogenase variant detected in an Italian man from the Po delta is described and designated as G6PD Modena. Biochemical characterization of the variant enzyme revealed an activity 21% of normal, a slow electrophoretic mobility, increased Km value for NADP, decreased Km value for G6P and a complete absence of NADPH inhibition, which could account for the apparently nonhaemolytic...
Topics
- Adult
- Base Sequence
- Electrophoresis, Cellulose Acetate
- Glucosephosphate Dehydrogenase
- Glucosephosphate Dehydrogenase Deficiency
- Humans
- Hydrogen-Ion Concentration
- Male
- Molecular Sequence Data
- Mutation
