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

  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 Tinlin and Christine E. Brown and Chandler Andrews and Andrea Labelle and Yvette Chirinian and Lee A. O'Brien and Maha Othman and Georges E Rivard and Dilys Rapson and Christine Hough and David Lillicrap},
  volume={109 1},
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… 

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