Galactose-1-phosphate uridyl transferase gene mutations in women with premature ovarian failure.
We determined the frequency of galactose-1-phosphate uridyl transferase gene mutations: Q188R, K285N, and the Duarte allelle in 86 patients with idiopathic premature ovarian failure (POF) and 95 controls. No association of the mutations with POF was found.
Mlinar
Barbara
B
Department of Clinical Biochemistry, Faculty of Pharmacy, University of Ljubljana, Ljubljana, Slovenia.
Gersak
Ksenija
K
Karas
Natasa
N
Zitnik
Irena Prodan
IP
Battelino
Tadej
T
Lukac-Bajalo
Jana
J
D000293:Adolescent; D000328:Adult; D000483:Alleles; D016009:Chi-Square Distribution; D005260:Female; D006801:Humans; D009154:Mutation; D016649:Primary Ovarian Insufficiency / Q000201:enzymology* / Q000235:genetics*; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics*
D005694:UTP-Hexose-1-Phosphate Uridylyltransferase