title: Molecular genetics of the HPRT-deficiency syndromes.
mesh_terms: D000595:Amino Acid Sequence; D005260:Female; D006580:Genetic Carrier Screening; D006073:Gout / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics; D007926:Lesch-Nyhan Syndrome / Q000235:genetics / Q000378:metabolism*; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011687:Purines / Q000096:biosynthesis; D014527:Uric Acid / Q000378:metabolism
chemical_list: D011687:Purines; D014527:Uric Acid; D007041:Hypoxanthine Phosphoribosyltransferase