Associated Papers
A noncanonical splicing variant c.875-5 T > G in von Willebrand factor causes in-frame exon skipping and type 2A von Willebrand disease.
Liang Q et al.
Thrombosis Research, 2024
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
Unraveling the molecular basis underlying nine putative splice site variants of von Willebrand factor.
Liang Q et al.
Human Mutation, 2022
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
Molecular and clinical profile of type 2 von Willebrand disease in Iran: a thirteen-year experience.
Rassoulzadegan M et al.
International Journal of Hematology, 2020
Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA.
Borràs N et al.
Haematologica, 2019
Characterization of aberrant splicing of von Willebrand factor in von Willebrand disease: an underrecognized mechanism.
Hawke L et al.
Blood, 2016
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
[The phenotypic and genotypic diagnosis of three Chinese patients with von Willebrand disease].
Jiang LL et al.
Zhonghua Nei Ke Za Zhi, 2012
The molecular basis of von Willebrand disease: the under investigated, the unexpected and the overlooked.
Hampshire DJ et al.
Haematologica, 2011
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
Select a paper to view details