CLEC4M and STXBP5 gene variations contribute to vonWillebrand factor level variation in von Willebrand disease

Sanders Y. V.; van der Bom J. G.; Isaacs A.; Cnossen M. H.; de Maat M. P. M.; Laros-van Gorkom B. A. P.; Fijnvandraat K.; Meijer K.; van Duijn C. M.; Mauser-Bunschoten E. P.; Eikenboom J.; Leebeek F. W. G.

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CLEC4M and STXBP5 gene variations contribute to vonWillebrand factor level variation in von Willebrand disease

机译：CLEC4M和STXBP5基因变异导致von Willebrand病中von Willebrand因子水平变化

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Backgroundvon Willebrand factor (VWF) levels in healthy individuals are influenced by variations in genetic loci other than the VWF gene, whose contribution to VWF levels in patients with von Willebrand disease (VWD) is largely unknown.

机译：背景健康个体中的血管性假血友病因子（VWF）水平受VWF基因以外的基因座变异的影响，该基因座对血管性假性血友病（VWD）患者的VWF水平的贡献尚不清楚。

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《Journal of thrombosis and haemostasis: JTH》 |2015年第6期|共11页
作者
Sanders Y. V.; van der Bom J. G.; Isaacs A.; Cnossen M. H.; de Maat M. P. M.; Laros-van Gorkom B. A. P.; Fijnvandraat K.; Meijer K.; van Duijn C. M.; Mauser-Bunschoten E. P.; Eikenboom J.; Leebeek F. W. G.;
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正文语种 eng
中图分类临床医学;
关键词
CLEC4M protein; human; polymorphism; single nucleotide; STXBP5 protein; human; von Willebrand disease; von Willebrand factor;

机译：CLEC4M蛋白;人类;多态性;单核苷酸;STXBP5蛋白;人类;von Willebrand病;von Willebrand因子;

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1. CLEC4M and STXBP5 gene variations contribute to vonWillebrand factor level variation in von Willebrand disease [J] . Sanders Y. V., van der Bom J. G., Isaacs A., Journal of thrombosis and haemostasis: JTH . 2015,第6期

机译：CLEC4M和STXBP5基因变异导致von Willebrand病中von Willebrand因子水平变化
2. The C-type lectin receptor CLEC4M binds, internalizes, and clears von Willebrand factor and contributes to the variation in plasma von Willebrand factor levels. [J] . Natalia Rydz, Laura L Swystun, Colleen Notley, Blood: The Journal of the American Society of Hematology . 2013,第26期

机译：C型凝集素受体CLEC4M结合，内化和清除血管性假血友病因子，并有助于血浆血管性假血友病因子水平的变化。
3. Variation in the von Willebrand factor gene is associated with von Willebrand factor levels and with the risk for cardiovascular disease. [J] . van Schie MC, de Maat MP, Isaacs A, Blood: The Journal of the American Society of Hematology . 2011,第4期

机译：血管性假血友病因子基因的变异与血管性假血友病因子水平和心血管疾病的风险有关。
4. EOF analysis exploring factors contributing to temporal and spatial variations in the tidal level of the Yangtze River estuary [C] . Yuan Shi, JianFeng Tao, Zheng Gong, International Ocean and Polar Engineering Conference . 2019

机译：EOF分析探讨了长江河口潮汐水平的时间和空间变化的因素
5. Conditional linkage methods--Searching for modifier genes in a large Amish pedigree with known von Willebrand Disease major gene mutation. [D] . Abbott, Diana Lee. 2009

机译：条件连锁法-在一个大型阿米什（Amish）谱系中搜索具有已知von Willebrand疾病主要基因突变的修饰基因。
6. The C-type lectin receptor CLEC4M binds internalizes and clears von Willebrand factor and contributes to the variation in plasma von Willebrand factor levels [O] . Natalia Rydz, Laura L. Swystun, Colleen Notley, -1

机译：C型凝集素受体CLEC4M结合内化和清除von Willebrand因子并有助于血浆von Willebrand因子水平的变化
7. CLEC4M and STXBP5 gene variations contribute to vonWillebrand factor level variation in von Willebrand disease [O] . Sanders, Y. V., van der Bom, J. G., Isaacs, A., 2015

机译：CLEC4M和STXBP5基因变异导致von Willebrand病中von Willebrand因子水平变化

CLEC4M and STXBP5 gene variations contribute to vonWillebrand factor level variation in von Willebrand disease

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