Hypoxanthine-guanine phosphoribosyltransferase deficiency: altered kinetic properties of a specific mutant form of the enzyme.
D004355:Drug Stability; D004912:Erythrocytes / Q000201:enzymology; D005347:Fibroblasts / Q000201:enzymology; D006147:Guanine; D006150:Guanine Nucleotides; D006358:Hot Temperature; D006801:Humans; D007042:Hypoxanthines; D007292:Inosine Nucleotides; D007700:Kinetics; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology*; D009154:Mutation; D009928:Organ Specificity; D010428:Pentosephosphates; D010430:Pentosyltransferases / Q000378:metabolism*; D010756:Phosphoric Acids; D011489:Protein Denaturation; D012867:Skin / Q000201:enzymology
D006150:Guanine Nucleotides; D007042:Hypoxanthines; D007292:Inosine Nucleotides; D010428:Pentosephosphates; D010756:Phosphoric Acids; D006147:Guanine; D010430:Pentosyltransferases