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Case Reports
. 1975 Oct 20;30(1):35-40.
doi: 10.1007/BF00273629.

A new variant of glucosephosphate isomerase deficiency

J P Van Biervliet, A Vlug, H Bartstra, J J Rotteveel, G A de Vaan, G E Staal
Case Reports

A new variant of glucosephosphate isomerase deficiency

J P Van Biervliet et al. Humangenetik. .

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.

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References

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