title: Direct evidence for a hot spot of germline mutation at HPRT locus.
authors.affiliation: Second Department of Internal Medicine, Teikyo University School of Medicine, Tokyo, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Fujimori
authors.forename: T
authors.initials: T
authors.lastname: Tagaya
authors.forename: N
authors.initials: N
authors.lastname: Yamaoka
authors.forename: H
authors.initials: H
authors.lastname: Saito
authors.forename: N
authors.initials: N
authors.lastname: Kamatani
authors.forename: I
authors.initials: I
authors.lastname: Akaoka
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D005091:Exons; D005190:Family; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency / Q000235:genetics*; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology / Q000235:genetics*; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase