title: A first evidence of an asymptomatic germline missense base substitution in the hypoxanthine phosphoribosyltransferase (HPRT) gene in humans.
authors.affiliation: Second Department of Internal Medicine, Teikyo University School of Medicine.
authors.forename: S
authors.initials: S
authors.lastname: Fujimori
authors.forename: N
authors.initials: N
authors.lastname: Yamaoka
authors.forename: R
authors.initials: R
authors.lastname: Sakuma
authors.forename: M
authors.initials: M
authors.lastname: Hakoda
authors.forename: H
authors.initials: H
authors.lastname: Yamanaka
authors.forename: I
authors.initials: I
authors.lastname: Akaoka
authors.forename: N
authors.initials: N
authors.lastname: Kamatani
mesh_terms: D000595:Amino Acid Sequence; D001402:B-Lymphocytes / Q000201:enzymology; D001483:Base Sequence; D003062:Codon; D017931:DNA Primers; D004912:Erythrocytes / Q000201:enzymology; D005091:Exons; D006461:Hemolysis; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000097:blood / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D014960:X Chromosome
chemical_list: D003062:Codon; D017931:DNA Primers; D007041:Hypoxanthine Phosphoribosyltransferase