title: An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome). II. Genetic studies.
mesh_terms: D000225:Adenine / Q000378:metabolism; D001345:Autoradiography; D001789:Blood Group Antigens; D002250:Carbon Radioisotopes; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D005838:Genotype; D006197:Hair / Q000378:metabolism; D006801:Humans; D007042:Hypoxanthines / Q000378:metabolism; D007926:Lesch-Nyhan Syndrome / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D008214:Lymphocytes / Q000378:metabolism; D008297:Male; D010375:Pedigree; D010430:Pentosyltransferases / Q000378:metabolism*; D014316:Tritium; D014527:Uric Acid / Q000097:blood
chemical_list: D001789:Blood Group Antigens; D002250:Carbon Radioisotopes; D007042:Hypoxanthines; D014316:Tritium; D014527:Uric Acid; D010430:Pentosyltransferases; D000225:Adenine