卵巢早衰女性中的半乳糖-1-磷酸尿苷酰转移酶基因突变
Galactose-1-phosphate uridyl transferase gene mutations in women with premature ovarian failure.
作者信息
Mlinar Barbara, Gersak Ksenija, Karas Natasa, Zitnik Irena Prodan, Battelino Tadej, Lukac-Bajalo Jana
机构信息
Department of Clinical Biochemistry, Faculty of Pharmacy, University of Ljubljana, Ljubljana, Slovenia.
出版信息
Fertil Steril. 2005 Jul;84(1):253-5. doi: 10.1016/j.fertnstert.2004.09.041.
Abstract
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.
摘要
我们测定了86例特发性卵巢早衰（POF）患者及95名对照者中1-磷酸半乳糖尿苷转移酶基因突变（Q188R、K285N）及杜阿尔特等位基因的频率。未发现这些突变与POF之间存在关联。
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