Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease.

@article{OBrien2003FounderVW,
  title={Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease.},
  author={L. O'Brien and P. James and M. Othman and E. Berber and C. Cameron and C. Notley and C. Hegadorn and J. Sutherland and C. Hough and G. Rivard and D. O'Shaunessey and D. Lillicrap},
  journal={Blood},
  year={2003},
  volume={102 2},
  pages={
          549-57
        }
}
To date, no dominant mutation has been identified in a significant proportion of patients with type 1 von Willebrand disease (VWD). In this study, we examined 70 families as part of the Canadian Type 1 VWD Study. The entire VWF gene was sequenced for 1 index case, revealing 2 sequence variations: intron 30 (5312-19A>C) and exon 28 at Tyr1584Cys (4751A>G). The Tyr1584Cys variation was identified in 14.3% (10 of 70) of the families and was in phase with the 5312-19A>C variation in 7 (10.0… Expand
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