Detection of the heterozygote in Lesch-Nyhan disease by hair-root analysis.
D000249:Adenosine Monophosphate; D001264:Athetosis / Q000175:diagnosis*; D004796:Clinical Enzyme Tests; D046508:Culture Techniques; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006197:Hair / Q000201:enzymology*; D006579:Heterozygote; D006801:Humans; D007042:Hypoxanthines / Q000378:metabolism; D008607:Intellectual Disability / Q000175:diagnosis*; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D008297:Male; D009030:Mosaicism; D010430:Pentosyltransferases / Q000032:analysis*; D010756:Phosphoric Acids; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis*; D012266:Ribose; D012535:Scalp; D012652:Self Mutilation / Q000175:diagnosis*; D014316:Tritium
D007042:Hypoxanthines; D010756:Phosphoric Acids; D014316:Tritium; D000249:Adenosine Monophosphate; D012266:Ribose; D010430:Pentosyltransferases