Partial HPRT Deficiency : Heterozygotes Exhibit One Cell Population in Intact Cell Assays

  • R. B. Gordon
  • L. Thompson
  • B. T. Emmerson
Part of the Advances in Experimental Medicine and Biology book series


Heterozygotes for the partial deficiency of HPRT exhibit levels of enzyme activity in cell lysates which are intermediate between the activity values obtained for normal individuals and those for severely deficient patients (1). The likely interpretation of this finding is that these intermediate enzyme activities reflect varying proportions of HPRT-normal and HPRT-deficient cells. The present report summarises studies on heterozygotes from several families with partial HPRT deficiency.


Mutant Cell Partial Deficiency Base Transport Princess Alexandra Hospital Expected Observe 
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Copyright information

© Plenum Press, New York 1977

Authors and Affiliations

  • R. B. Gordon
    • 1
    • 2
  • L. Thompson
    • 1
    • 2
  • B. T. Emmerson
    • 1
    • 2
  1. 1.Department of MedicineUniversity of QueenslandAustralia
  2. 2.Princess Alexandra HospitalBrisbaneAustralia

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