Electrophoretic Variation in Partial Deficiencies of Hypoxanthine-Guanine Phosphoribosyltransferase
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In the study of inherited abnormalities of man the demonstration of variable properties of the assayable gene products have provided evidence for structural gene mutations. Different variants from the normal have suggested heterogeneity of these mutations. Structural alterations of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) have been expressed by abnormalities of enzyme kinetic properties and physical properties in circulating erythrocytes and cultured cells.
KeywordsMutant Enzyme Partial Deficiency Electrophoretic Variation Adenine Phosphoribosyltransferase Normal Specific Activity
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