Hypoxanthine-Guanine Phosphoribosyltransferase in Human Lymphoblastoid Cells: Confirmation of Four Structural Variants and Demonstration of a New Variant (HPRTAnn Arbor)
An inherited deficiency of hypoxanthine-guanine phosphoribo-syltransferase (HPRT) has been described in two distinct clinical syndromes. A virtually complete deficiency of enzyme activity is associated with patients having the Lesch-Nyhan syndrome (1) while a partial deficiency of enzyme activity leads to hyperuricemia and an early onset of gout (2).
KeywordsLymphoblastoid Cell Line Enzyme Variant HPRT Gene Subunit Molecular Weight Distinct Clinical Syndrome
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- 4.J.M. Wilson, B.W. Baugher, P.M. Mattes, P.E. Daddona, and W.N. Kelley, Human hypoxanthine-guanine phosphoribosyltransferase: demonstration of structural variants in lymphoblastoid cells derived from patients with a deficiency of the enzyme, J.Clin. Invest. 69: 706–715 (1982).PubMedCrossRefGoogle Scholar