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Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD cohort

机译：VWF基因内的多态性变异导致未能从MCMDM-1VWD队列中历来诊断为1型von Willebrand病的患者中检测突变

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Hampshire, Daniel J.; Burghel, George J.; Goudemand, Jenny; Bouvet, Laura C. S.; Eikenboom, Jeroen C. J.; Schneppenheim, Reinhard; Budde, Ulrich; Peake, Ian R.; Goodeve, Anne C.;
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1. Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD). [J] . Haberichter SL, Castaman G, Budde U, Blood: The Journal of the American Society of Hematology . 2008,第10期

机译：通过在欧洲研究中通过VWF前肽的测定来识别von Willebrand因子存活率降低的1型von Willebrand病患者：诊断和管理1型VWD（MCMDM-1VWD）的分子和临床标志物。
2. EVALUATION OF THE VON WILLEBRAND FACTOR (VWF) INHIBITOR IN A LARGE COHORT OF EUROPEAN AND IRANIAN PATIENTS PREVIOUSLY DIAGNOSED WITH TYPE 3 VON WILLEBRAND DISEASE (VWD3) ENROLLED INTO THE 3WINTER-IPS PROJECT [J] . Baronciani L., Budde U., Stufano F., Archives of disease in childhood . 2019,第Suppla1期

机译：在欧洲和伊朗患者的大型欧洲和伊朗患者诊断患有3型von Willebrand疾病（第VD3）中的欧洲和伊朗患者中的von Willebrand因子（vwf）抑制剂评估纳入3winter-ips项目
3. Biochemical characterization of a recombinant von Willebrand factor (VWF) with combined type 2B and type 1 defects in the VWF gene in two patients with a type 2A phenotype of von Willebrand disease. [J] . Baronciani L, Federici AB, Cozzi G, Journal of thrombosis and haemostasis: JTH . 2007,第2期

机译：在两名患有von Willebrand病2A型表型的患者中，重组的von Willebrand因子（VWF）的2B型和VWF基因缺陷组合的生化特征。
4. Genetic Mutation Types Detected in 25 Blood Samples of KHMER Patient with Beta-thalassemia in Bac Lieu Province [C] . Pham Thi Ngoc Nga, Nguyen Trung Kien International Conference on Biomedical Engineering in Vietnam . 2015

机译：在Bac Lieu省的β-Thalassemia中检测到25例Khmer患者血液样本中检测到的遗传突变类型
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. Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD cohort [O] . Daniel J. Hampshire, George J. Burghel, Jenny Goudemand, 2010

机译：VWF基因内的多态性变异导致未能从MCMDM-1VWD队列中历来诊断为1型von Willebrand病的患者中检测突变
7. Identification and characterization of novel variations in platelet G-protein coupled receptor (GPCR) genes in patients historically diagnosed with type 1 von Willebrand disease : GPCR variations in type 1 von Willebrand disease [O] . Stockley, Jacqueline, Nisar, Shaista P., Leo, Vincenzo C., 2015

机译：在历史上被诊断患有1型von Willebrand病的患者中血小板G蛋白偶联受体（GPCR）基因的新型变异的鉴定和表征：1型von Willebrand病的GPCR变异

Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD cohort

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