The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study.

@article{James2007TheMS,
  title={The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study.},
  author={Paula D James and Colleen R P Notley and Carol A. Hegadorn and Jayne Leggo and Angie Tuttle and Shawn J Tinlin and Christine R Brown and Chandler Andrews and Andrea Labelle and Yvette Chirinian and L Morgan Nordstrom O'Brien and Maha W. Othman and Georges Etienne Rivard and Dilys Rapson and C. L. Hough and David Lillicrap},
  journal={Blood},
  year={2007},
  volume={109 1},
  pages={145-54}
}
In order to evaluate the changes within the VWF gene that might contribute to the pathogenesis of type 1 von Willebrand disease (VWD), a large multicenter Canadian study was undertaken. We present data from the sequence analysis of the VWF gene in 123 type 1 VWD index cases and their families. We have identified putative mutations within the VWF gene in 63% (n = 78) of index cases, leaving 37% (n = 45) with no identified changes. These changes comprise 50 different putative mutations: 31 (62… CONTINUE READING
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Evaluation of the von Willebrand factor Y1584C polymorphism as a potential risk factor for bleeding in patients receiving anticoagulant treatment with vitamin K antagonists

  • P Tjernberg, JF Van Der Heijden, JC Eikenboom, PH. Reitsma
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