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Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von willebrand disease from the MCMDM-1VWD cohort (2010)
Journal Article
Hampshire, D. J., Burghel, G. J., Goudem, J., Bouvet, L. C., Eikenboom, J. C., Schneppenheim, R., Budde, U., Peake, I. R., & Goodeve, C. (2010). Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von willebrand disease from the MCMDM-1VWD cohort. Haematologica, 95(12), 2163-2165. https://doi.org/10.3324/haematol.2010.027177

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 (2010)
Journal Article
Othman, M., Chirinian, Y., Brown, C., Notley, C., Hickson, N., Hampshire, D., Buckley, S., Waddington, S., Parker, A. L., Baker, A., James, P., & Lillicrap, D. (2010). 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. Blood, 116(18), 3645-3652. https://doi.org/10.1182/blood-2009-12-261131

We have studied the effect of a 13-bp deletion in the promoter of the von Willebrand factor (VWF) gene in a patient with type 1 von Willebrand disease. The index case has a VWF:Ag of 0.49 IU/mL and is heterozygous for the deletion. The deletion is lo... Read More about 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.

Von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels (2010)
Journal Article
Hickson, N., Hampshire, D., Winship, P., Goudemand, J., Schneppenheim, R., Budde, U., Castaman, G., Rodeghiero, F., Federici, A. B., James, P., Peake, I., Eikenboom, J., & Goodeve, A. (2010). Von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels. Journal of thrombosis and haemostasis : JTH, 8(9), 1986-1993. https://doi.org/10.1111/j.1538-7836.2010.03927.x

Background: von Willebrand factor (VWF) variant c.2771G>A; p.R924Q has been described as a benign polymorphism or a possible marker for a null allele and been associated with mild bleeding phenotypes. It was identified in several patients in recent t... Read More about Von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels.