Associated Papers
Genetic variants in VWF exon 26 and their implications for type 1 Von Willebrand disease in a Saudi Arabian population.
Alzahrani FM et al.
Open Life Sciences, 2025
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
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 mutation spectrum associated with type 3 von Willebrand disease in a cohort of patients from the north west of England.
Sutherland MS et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2009
A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3.
Sutherland MS et al.
Blood, 2009
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