title: Q188R, K285N, and N314D mutation-associated alleles in the galactose-1-phosphate uridyltransferase gene and female infertility.
abstract: In a retrospective case-control study, the frequencies of Q188R, K285N, N314D, and IVS5-24G>A mutations were determined with the use of polymerase chain reaction and restriction fragment length polymorphism in the group of infertile women and the controls. No statistically significant differences were observed in the allele frequencies between the infertile women and control groups.
authors.affiliation: Department of Clinical Biochemistry, Faculty of Pharmacy, University of Ljubljana, Ljubljana, Slovenia. jana.bajalo@ffa.uni-lj.si
authors.forename: Jana
authors.initials: J
authors.lastname: Lukac Bajalo
authors.forename: Simona
authors.initials: S
authors.lastname: Mencej
authors.forename: Natasa
authors.initials: N
authors.lastname: Karas
authors.forename: Barbara
authors.initials: B
authors.lastname: Mlinar
authors.forename: Irena Prodan
authors.initials: IP
authors.lastname: Zitnik
authors.forename: Ksenija
authors.initials: K
authors.lastname: Gersak
mesh_terms: D000328:Adult; D005260:Female; D005693:Galactosemias / Q000150:complications / Q000235:genetics*; D006801:Humans; D007247:Infertility, Female / Q000209:etiology / Q000235:genetics*; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics*
chemical_list: D005694:UTP-Hexose-1-Phosphate Uridylyltransferase