Genetic studies of HG- PRT deficiency and the Lesch-Nyhan syndrome with cultured human cells.
D000818:Animals; D001264:Athetosis / Q000235:genetics*; D001375:Azaguanine; D002460:Cell Line; D046508:Culture Techniques; D003677:Deficiency Diseases / Q000235:genetics*; D004195:Disease Models, Animal; D005347:Fibroblasts; D005964:Glucosyltransferases / Q000378:metabolism*; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007926:Lesch-Nyhan Syndrome / Q000235:genetics / Q000503:physiopathology; D008967:Molecular Biology; D009154:Mutation; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000235:genetics*; D012652:Self Mutilation / Q000235:genetics*; D012730:Sex Chromosomes; D014527:Uric Acid / Q000378:metabolism
D014527:Uric Acid; D005964:Glucosyltransferases; D001375:Azaguanine