Lesch-Nyhan syndrome: absence of the mutant enzyme in erythrocytes of a heterozygote for both normal and mutant hypoxanthine-guanine phosphoribosyl transferase.
D002247:Carbon Isotopes; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005796:Genes; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D007292:Inosine Nucleotides; D007700:Kinetics; D007926:Lesch-Nyhan Syndrome / Q000097:blood / Q000201:enzymology* / Q000473:pathology; D009154:Mutation; D010428:Pentosephosphates; D010430:Pentosyltransferases / Q000097:blood*; D010756:Phosphoric Acids; D012266:Ribose; D012730:Sex Chromosomes; D012867:Skin / Q000166:cytology
D002247:Carbon Isotopes; D007292:Inosine Nucleotides; D010428:Pentosephosphates; D010756:Phosphoric Acids; D012266:Ribose; D010430:Pentosyltransferases