Studies of skin fibroblasts from 10 families with HGPRT deficiency, with reference in X-chromosomal inactivation.
D001264:Athetosis / Q000235:genetics*; D001345:Autoradiography; D001706:Biopsy; D002470:Cell Survival; D002999:Clone Cells / Q000201:enzymology; D003470:Culture Media; D046508:Culture Techniques; D005260:Female; D006579:Heterozygote; D006801:Humans; D007042:Hypoxanthines / Q000378:metabolism; D008607:Intellectual Disability / Q000235:genetics*; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology / Q000235:genetics; D008297:Male; D009154:Mutation; D010641:Phenotype; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000235:genetics*; D012652:Self Mutilation / Q000235:genetics*; D012730:Sex Chromosomes / Q000378:metabolism*; D012867:Skin / Q000201:enzymology*; D014316:Tritium
D003470:Culture Media; D007042:Hypoxanthines; D014316:Tritium