title: Hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular basis of the clinical syndromes.
mesh_terms: D000595:Amino Acid Sequence; D001479:Basal Ganglia / Q000378:metabolism; D001923:Brain Chemistry; D002874:Chromosome Mapping; D004247:DNA / Q000032:analysis; D005260:Female; D005796:Genes; D014644:Genetic Variation; D006073:Gout / Q000201:enzymology; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics; D007669:Kidney Calculi / Q000201:enzymology; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology / Q000235:genetics / Q000378:metabolism; D008297:Male; D009154:Mutation; D018377:Neurotransmitter Agents / Q000378:metabolism; D011487:Protein Conformation
chemical_list: D018377:Neurotransmitter Agents; D004247:DNA; D007041:Hypoxanthine Phosphoribosyltransferase