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. 1969 Jan 10;163(3863):194-5.
doi: 10.1126/science.163.3863.194.

6-phosphogluconate dehydrogenase: hemizygous manifestation in a patient with leukemia

P J Fialkow, R Lisker, J Detter, E R Giblett, C Zavala

6-phosphogluconate dehydrogenase: hemizygous manifestation in a patient with leukemia

P J Fialkow et al. Science. .

Abstract

In a study of 41 patients with chronic myelocytic leukemia, two were found to have the 6-phosphogluconate dehydrogenase heterozygous phenotype A-B, and two had the phenotype characteristic of Pd(B) homozygosity. Since one of the two with Pd(B) homozygosity was the mother of two children with the A phenotype, it was presumed that she carried a Pd(A) gene not expressed in her blood cells. his was confirmed by electrophoretic analysis of her fibroblasts, which had the A-B phenotypic pattern. Gene deletion is considered to be the most likely explanation.

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