A New Variant of Glucosephosphate Isomerase Deficiency with Mild Haemolytic Anaemia (GPI-MYTHO)
β Scribed by Galand, C. ;Torres, M. ;Boivin, P. ;Bourgeaud, J. P.
- Book ID
- 114789197
- Publisher
- Wiley (Blackwell Publishing)
- Year
- 2009
- Weight
- 663 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0036-553X
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π SIMILAR VOLUMES
A new glucosephosphate isomerase (GPI) variant is described which is characterised by very low specific activity in erythrocytes, granulocytes and muscle tissue, nearly normal stability, normal kinetic properties and a decreased electrophoretic mobility. The propositus suffers from a complex syndrom
A new variant of glucose-6-phosphate isomerase deficiency is described. The enzyme kinetics and properties were studied. Genetic and electrophoretic data pointed to a double heterozygous state in the patient. These data are compared to the other variants described in the literature until now.