Literature DB >> 5249272

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

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

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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Year:  1969        PMID: 5249272     DOI: 10.1126/science.163.3863.194

Source DB:  PubMed          Journal:  Science        ISSN: 0036-8075            Impact factor:   47.728


  3 in total

1.  X-chromosome inactivation and the Xg locus.

Authors:  P J Fialkow
Journal:  Am J Hum Genet       Date:  1970-07       Impact factor: 11.025

2.  Chronic myelocytic leukemia. Origin of some lymphocytes from leukemic stem cells.

Authors:  P J Fialkow; A M Denman; R J Jacobson; M N Lowenthal
Journal:  J Clin Invest       Date:  1978-10       Impact factor: 14.808

3.  Autonomous erythropoiesis during erythroblastic crisis of chronic myelocytic leukemia.

Authors:  C H Srodes; E H Hyde; D R Boggs
Journal:  J Clin Invest       Date:  1973-02       Impact factor: 14.808

  3 in total

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