Abnormal property of human mutant hypoxanthine-guanine phosphoribosyltransferase: insensitivity of fibroblast enzyme to stabilization against freezing and thawing by 5-phosphoribosyl-1-pyrophosphate.
D002675:Child, Preschool; D011756:Diphosphates; D004789:Enzyme Activation; D005347:Fibroblasts / Q000201:enzymology*; D005615:Freezing; D006147:Guanine; D006801:Humans; D007042:Hypoxanthines; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000201:enzymology; D008875:Middle Aged; D009154:Mutation; D010430:Pentosyltransferases / Q000032:analysis*
D011756:Diphosphates; D007042:Hypoxanthines; D006147:Guanine; D010430:Pentosyltransferases