Detection of females heterozygous for the Lesch-Nyhan mutation by 8-azaguanine-resistant growth of cultured fibroblasts.
D001264:Athetosis / Q000235:genetics*; D001345:Autoradiography; D001375:Azaguanine / Q000037:antagonists & inhibitors*; D001706:Biopsy; D003192:Compulsive Behavior; D046508:Culture Techniques; D005260:Female; D005347:Fibroblasts / Q000254:growth & development*; D005826:Genetics, Medical; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis; D007042:Hypoxanthines / Q000494:pharmacology; D008607:Intellectual Disability / Q000175:diagnosis*; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis; D009154:Mutation; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis*; D011687:Purines / Q000378:metabolism; D012652:Self Mutilation / Q000175:diagnosis*; D012867:Skin; D014527:Uric Acid / Q000097:blood
D007042:Hypoxanthines; D011687:Purines; D014527:Uric Acid; D001375:Azaguanine