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={P. James and C. Notley and C. Hegadorn and J. Leggo and A. Tuttle and S. Tinlin and Christine E. Brown and Chandler Andrews and A. Labelle and Y. Chirinian and L. O'Brien and M. Othman and G. Rivard and D. Rapson and C. Hough and D. 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… Expand
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