Large deletions identified in patients with von Willebrand disease using multiple ligation-dependent probe amplification
Author:
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1538-7836.2011.04260.x/fullpdf
Reference9 articles.
1. The genetic basis of von Willebrand disease;Goodeve;Blood Rev,2010
2. Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor;Sadler;J Thromb Haemost,2006
3. Von Willebrand disease - phenotype versus genotype: deficiency versus disease;Lillicrap;Thromb Res,2007
4. A common 253-kb deletion involving VWF and TMEM16B in German and Italian patients with severe von Willebrand disease type 3;Schneppenheim;J Thromb Haemost,2007
5. The molecular analysis of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors’ Organisation Haemophilia Genetics Laboratory Network;Keeney;Haemophilia,2008
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1. Unravelling the spectrum of von Willebrand factor variants in quantitative von Willebrand disease: results from a German cohort study;Journal of Thrombosis and Haemostasis;2024-07
2. Characterization of copy-number variants in a large cohort of patients with von Willebrand disease reveals a relationship between disrupted regions and disease type;Research and Practice in Thrombosis and Haemostasis;2023-10
3. Type 1 von Willebrand Disease in a Pediatric Patient Caused by a Novel Heterozygous Deletion of Exons 1 to 6 of the von Willebrand Factor Gene: A Case Report;Laboratory Medicine;2022-12-05
4. A Homozygous Deep Intronic Variant Causes Von Willebrand Factor Deficiency and Lack of Endothelial-Specific Secretory Organelles, Weibel–Palade Bodies;International Journal of Molecular Sciences;2022-03-13
5. Multifaceted pathomolecular mechanism of a VWF large deletion involved in the pathogenesis of severe VWD;Blood Advances;2022-02-07
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