Integration of molecular and clinical data of 40 unrelated von Willebrand Disease families in a Spanish locus-specific mutation database: first release including 58 mutations.
作者信息
Corrales Irene, Ramírez Lorena, Ayats Júlia, Altisent Carme, Parra Rafael, Vidal Francisco
出版信息
Haematologica. 2010 Nov;95(11):1982-4. doi: 10.3324/haematol.2010.028977. Epub 2010 Aug 26.
Abstract
摘要
相似文献
1
Integration of molecular and clinical data of 40 unrelated von Willebrand Disease families in a Spanish locus-specific mutation database: first release including 58 mutations.40个非亲缘性血管性血友病（von Willebrand Disease）家族的分子和临床数据整合到西班牙位点特异性突变数据库：首次发布，包含58种突变。
Haematologica. 2010 Nov;95(11):1982-4. doi: 10.3324/haematol.2010.028977. Epub 2010 Aug 26.
2
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): Proposal for a new diagnostic paradigm.西班牙血管性血友病的分子与临床特征（PCM-EVW-ES）：一种新诊断模式的提议
Thromb Haemost. 2016 Jan;115(1):40-50. doi: 10.1160/TH15-04-0282. Epub 2015 Aug 6.
3
Unraveling the Influence of Common von Willebrand factor variants on von Willebrand Disease Phenotype: An Exploratory Study on the Molecular and Clinical Profile of von Willebrand Disease in Spain Cohort.解析常见血管性血友病因子变异对血管性血友病表型的影响：西班牙队列血管性血友病分子和临床特征的探索性研究。
Thromb Haemost. 2020 Mar;120(3):437-448. doi: 10.1055/s-0040-1702227. Epub 2020 Mar 5.
4
Arg578Gln mutations in the von Willebrand factor gene in three unrelated cases of type IIB von Willebrand disease.三例非亲缘关系的IIB型血管性血友病患者血管性血友病因子基因中的Arg578Gln突变
Blood Coagul Fibrinolysis. 1993 Oct;4(5):787-9.
5
Q1311X: a novel nonsense mutation of putative ancient origin in the von Willebrand factor gene.
Br J Haematol. 2000 Nov;111(2):552-5. doi: 10.1046/j.1365-2141.2000.02410.x.
6
Identification of a new candidate mutation, G1629R, in a family with type 2A von Willebrand disease.在一个2A型血管性血友病家族中鉴定出一种新的候选突变G1629R。
Am J Hematol. 1999 Apr;60(4):309-10. doi: 10.1002/(sici)1096-8652(199904)60:4<309::aid-ajh10>3.0.co;2-p.
7
Mutations of von Willebrand factor gene in families with von Willebrand disease in the Aland Islands.奥兰群岛血管性血友病家族中血管性血友病因子基因的突变
Proc Natl Acad Sci U S A. 1993 Sep 1;90(17):7937-40. doi: 10.1073/pnas.90.17.7937.
8
Germline de novo mutations and linkage markers vs. DNA sequencing for carrier detection in von Willebrand disease.用于检测血管性血友病携带者的种系新发突变和连锁标记物与DNA测序的比较
Haemophilia. 2014 Jul;20(4):e311-7. doi: 10.1111/hae.12441. Epub 2014 Apr 8.
9
Congenital von Willebrand disease type 3: clinical manifestations, pathophysiology and molecular biology.
Best Pract Res Clin Haematol. 2001 Jun;14(2):365-79. doi: 10.1053/beha.2001.0139.
10
The international society on thrombosis and haematosis von Willebrand disease database: an update.国际血栓与止血学会 von Willebrand 疾病数据库：更新。
Semin Thromb Hemost. 2011 Jul;37(5):470-9. doi: 10.1055/s-0031-1281031. Epub 2011 Nov 18.
引用本文的文献
1
Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS.3WINTERS-IPS 研究中登记的 3 型血管性血友病欧洲和伊朗患者的基因型。
Blood Adv. 2021 Aug 10;5(15):2987-3001. doi: 10.1182/bloodadvances.2020003397.
2
High-throughput molecular diagnosis of von Willebrand disease by next generation sequencing methods.高通量分子诊断方法对血管性血友病的下一代测序。
Haematologica. 2012 Jul;97(7):1003-7. doi: 10.3324/haematol.2011.055285. Epub 2012 Feb 7.
本文引用的文献
1
Clinical and laboratory versus molecular markers for a correct classification of von Willebrand disease.用于正确分类血管性血友病的临床及实验室指标与分子标志物
Haematologica. 2009 May;94(5):610-5. doi: 10.3324/haematol.2009.005751.
2
Rapid molecular diagnosis of von Willebrand disease by direct sequencing. Detection of 12 novel putative mutations in VWF gene.通过直接测序对血管性血友病进行快速分子诊断。检测血管性血友病因子（VWF）基因中的12个新的推定突变。
Thromb Haemost. 2009 Mar;101(3):570-6. doi: 10.1160/th08-08-0500.
3
Evaluation of in silico splice tools for decision-making in molecular diagnosis.用于分子诊断决策的电子剪接工具评估
Hum Mutat. 2008 Jul;29(7):975-82. doi: 10.1002/humu.20765.
4
The impact of next-generation sequencing technology on genetics.下一代测序技术对遗传学的影响。
Trends Genet. 2008 Mar;24(3):133-41. doi: 10.1016/j.tig.2007.12.007. Epub 2008 Feb 11.
5
Recommendations for locus-specific databases and their curation.特定基因座数据库及其管理的建议。
Hum Mutat. 2008 Jan;29(1):2-5. doi: 10.1002/humu.20650.
6
Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor.血管性血友病的病理生理学与分类更新：血管性血友病因子小组委员会报告
J Thromb Haemost. 2006 Oct;4(10):2103-14. doi: 10.1111/j.1538-7836.2006.02146.x. Epub 2006 Aug 2.
7
Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases.建立统一的突变描述与报告系统的时机：位点特异性突变数据库综述
Genome Res. 2002 May;12(5):680-8. doi: 10.1101/gr.217702.
8
Zotero 插件