Oct 20, 1975

A new variant of glucosephosphate isomerase deficiency

Humangenetik
J P van BiervlietG E Staal

Abstract

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.

Mentioned in this Paper

Hot Temperature
GPI
Drug Stability
Anemia, Hemolytic, Congenital Nonspherocytic
Alleles
Erythrocytes
Hydrogen-Ion Concentration
Genetic Carriers
Autocrine Motility Factor
Genealogical Tree

About this Paper

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