Associated Papers
Structures of VWF tubules before and after concatemerization reveal a mechanism of disulfide bond exchange.
Anderson JR et al.
Blood, 2022
35776905 (PubMed )
Supplement: 10.1182-2022016467_bloodbld2022016467-suppl1.pdf
Laboratory variability in the diagnosis of type 2 VWD variants.
DiGiandomenico S et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.
Sun J et al.
Genomics, Proteomics & Bioinformatics, 2020
32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
A synonymous (c.3390C>T) or a splice-site (c.3380-2A>G) mutation causes exon 26 skipping in four patients with von Willebrand disease (2A/IIE).
Pagliari MT et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
Comparison of type I, type III and type VI collagen binding assays in diagnosis of von Willebrand disease.
Flood VH et al.
Journal of Thrombosis and Haemostasis : Jth, 2012
Laboratory diagnosis of von Willebrand disease type 1/2E (2A subtype IIE), type 1 Vicenza and mild type 1 caused by mutations in the D3, D4, B1-B3 and C1-C2 domains of the von Willebrand factor gene. Role of von Willebrand factor multimers and the von Willebrand factor propeptide/antigen ratio.
Gadisseur A et al.
Acta Haematologica, 2009
A novel type 2A von Willebrand factor mutation located at the last nucleotide of exon 26 (3538G>A) causes skipping of 2 nonadjacent exons.
James PD et al.
Blood, 2004
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