Effect of the VWF promoter (GT)n repeat and single-nucleotide polymorphism c.-2527G>A on circulating von Willebrand factor levels under normal conditions.
作者信息
Hickson N, Hampshire D, Castaman G, Eikenboom J, Rodeghiero F, Peake I, Goodeve A
出版信息
J Thromb Haemost. 2011 Mar;9(3):603-5. doi: 10.1111/j.1538-7836.2010.04161.x.
Abstract
摘要
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Effect of the VWF promoter (GT)n repeat and single-nucleotide polymorphism c.-2527G>A on circulating von Willebrand factor levels under normal conditions.血管性血友病因子（VWF）启动子（GT）n重复序列及单核苷酸多态性c.-2527G>A在正常条件下对循环血管性血友病因子水平的影响
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Microsatellite (GT)(n) is part of the von Willebrand factor (VWF) promoter region that influences the glucocorticoid-induced increase in VWF in Cushing's syndrome.微卫星 (GT)(n) 是血管性血友病因子 (VWF) 启动子区域的一部分，可影响库欣综合征中糖皮质激素诱导的 VWF 增加。
Thromb Res. 2010 Jun;125(6):e275-80. doi: 10.1016/j.thromres.2010.01.031. Epub 2010 Feb 13.
2
3
Distribution of von Willebrand factor levels in young women with and without bleeding symptoms: influence of ABO blood group and promoter haplotypes.有和无出血症状的年轻女性血管性血友病因子水平的分布：ABO血型和启动子单倍型的影响
Thromb Haemost. 2008 Jun;99(6):1013-8. doi: 10.1160/TH07-06-0419.
4
Influence of a GT repeat element on shear stress responsiveness of the VWF gene promoter.
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Polymorphisms in von Willebrand factor gene promoter influence the glucocorticoid-induced increase in von Willebrand factor: the lesson learned from Cushing syndrome.血管性血友病因子基因启动子多态性影响糖皮质激素诱导的血管性血友病因子增加：从库欣综合征中得到的教训。
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Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD).在欧洲开展的“1型血管性血友病诊断与管理的分子和临床标志物研究（MCMDM-1VWD）”中，一组历史上被诊断为1型血管性血友病的家族的表型和基因型。
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A single nucleotide polymorphism at nucleotide -1793 in the von Willebrand factor (VWF) regulatory region is associated with plasma VWF:Ag levels.血管性血友病因子（VWF）调控区域核苷酸-1793处的单核苷酸多态性与血浆VWF:Ag水平相关。
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