title: HPRT gene mutations in a female Lesch-Nyhan patient.
authors.affiliation: Department of Genetics, Institute for Developmental Research, Aichi, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Ogasawara
authors.forename: Y
authors.initials: Y
authors.lastname: Yamada
authors.forename: H
authors.initials: H
authors.lastname: Goto
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002872:Chromosome Deletion; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004303:Dosage Compensation, Genetic; D005260:Female; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency / Q000235:genetics*; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology / Q000235:genetics*; D008745:Methylation; D008969:Molecular Sequence Data; D014960:X Chromosome
chemical_list: D004247:DNA; D007041:Hypoxanthine Phosphoribosyltransferase