Partial HPRT Deficiency : Heterozygotes Exhibit One Cell Population in Intact Cell Assays
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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.
KeywordsMutant Cell Partial Deficiency Base Transport Princess Alexandra Hospital Expected Observe
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