title: Genetic and clinical heterogeneity in hypoxanthine phosphoribosyltransferase deficiencies.
authors.affiliation: Institute of Anthropology and Human Genetics, University of Munich, Germany.
authors.forename: R
authors.initials: R
authors.lastname: Burgemeister
authors.forename: W
authors.initials: W
authors.lastname: Gutensohn
authors.forename: G
authors.initials: G
authors.lastname: Van den Berghe
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
mesh_terms: D001483:Base Sequence; D017931:DNA Primers; D004912:Erythrocytes / Q000201:enzymology; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics*; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics*
chemical_list: D017931:DNA Primers; D007041:Hypoxanthine Phosphoribosyltransferase