title: Identification of a new missense mutation in exon 2 of the human hypoxanthine phosphoribosyltransferase gene (HPRTIsar): a further example of clinical heterogeneity in HPRT deficiencies.
authors.affiliation: Institut für Anthropologie and Humangenetik, München, Germany.
authors.forename: R
authors.initials: R
authors.lastname: Burgemeister
authors.forename: E
authors.initials: E
authors.lastname: Rötzer
authors.forename: W
authors.initials: W
authors.lastname: Gutensohn
authors.forename: M
authors.initials: M
authors.lastname: Gehrke
authors.forename: W
authors.initials: W
authors.lastname: Schiel
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D005091:Exons; D018740:Genetic Heterogeneity; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency / Q000235:genetics*; D007223:Infant; D008969:Molecular Sequence Data; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase