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[Mutation analysis of VWF gene in two patients with von Willebrand disease by target sequence capture and high-throughput sequencing technology].

作者信息

Feng Y, Mei S Y, Liu N, Guo R X

机构信息

Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450002, China.

出版信息

Zhonghua Xue Ye Xue Za Zhi. 2018 Mar 14;39(3):242-244. doi: 10.3760/cma.j.issn.0253-2727.2018.03.014.

DOI:10.3760/cma.j.issn.0253-2727.2018.03.014
PMID:29562472
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7343000/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5b68/7343000/e4fde3799ea5/cjh-39-03-242-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5b68/7343000/84a337b83ffd/cjh-39-03-242-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5b68/7343000/e4fde3799ea5/cjh-39-03-242-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5b68/7343000/84a337b83ffd/cjh-39-03-242-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5b68/7343000/e4fde3799ea5/cjh-39-03-242-g002.jpg

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本文引用的文献

1
New insights into genotype and phenotype of VWD.血管性血友病（VWD）基因型和表型的新见解。
Hematology Am Soc Hematol Educ Program. 2014 Dec 5;2014(1):531-5. doi: 10.1182/asheducation-2014.1.531. Epub 2014 Nov 18.
2
The molecular genetics of von Willebrand disease.血管性血友病的分子遗传学
Turk J Haematol. 2012 Dec;29(4):313-24. doi: 10.5505/tjh.2012.39205. Epub 2012 Dec 5.
3
The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles.加拿大 3 型血管性血友病的遗传学：突变等位基因共显性遗传的进一步证据。
J Thromb Haemost. 2013 Mar;11(3):512-20. doi: 10.1111/jth.12130.
4
Functional characterization of a 13-bp deletion (c.-1522_-1510del13) in the promoter of the von Willebrand factor gene in type 1 von Willebrand disease.1 型血管性血友病中血管性血友病因子基因启动子 13 个碱基缺失（c.-1522_-1510del13）的功能特征。
Blood. 2010 Nov 4;116(18):3645-52. doi: 10.1182/blood-2009-12-261131. Epub 2010 Aug 9.
5
The prevalence of symptomatic von Willebrand disease in primary care practice.基层医疗实践中症状性血管性血友病的患病率。
J Thromb Haemost. 2010 Jan;8(1):213-6. doi: 10.1111/j.1538-7836.2009.03661.x. Epub 2009 Oct 23.
6
Type 1 von Willebrand disease: application of emerging data to clinical practice.1型血管性血友病：新兴数据在临床实践中的应用
Haemophilia. 2008 Jul;14(4):685-96. doi: 10.1111/j.1365-2516.2008.01757.x. Epub 2008 May 23.
7
An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease.对英国诊断为1型血管性血友病的患者进行血管性血友病因子基因型调查。
Thromb Haemost. 2006 Nov;96(5):630-41.
8
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.
9
Assay of the von Willebrand factor (VWF) propeptide to identify patients with type 1 von Willebrand disease with decreased VWF survival.检测血管性血友病因子（VWF）前肽以识别血管性血友病1型且VWF生存期缩短的患者。
Blood. 2006 Nov 15;108(10):3344-51. doi: 10.1182/blood-2006-04-015065. Epub 2006 Jul 11.
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Cysteine-mutations in von Willebrand factor associated with increased clearance.血管性血友病因子中的半胱氨酸突变与清除率增加相关。
J Thromb Haemost. 2005 Oct;3(10):2228-37. doi: 10.1111/j.1538-7836.2005.01571.x.