Pathologic mechanisms of type 1 VWD mutations R1205H and Y1584C through in vitro and in vivo mouse models.

@article{Pruss2011PathologicMO,
  title={Pathologic mechanisms of type 1 VWD mutations R1205H and Y1584C through in vitro and in vivo mouse models.},
  author={C. Pruss and M. Golder and A. Bryant and C. Hegadorn and E. Burnett and Kimberly J. Laverty and Kate Sponagle and Aly S. Dhala and C. Notley and S. Haberichter and D. Lillicrap},
  journal={Blood},
  year={2011},
  volume={117 16},
  pages={
          4358-66
        }
}
Type 1 VWD is the mild to moderate reduction of VWF levels. This study examined the mechanisms underlying 2 common type 1 VWD mutations, the severe R1205H and more moderate Y1584C. In vitro biosynthesis was reduced for both mutations in human and mouse VWF, with the effect being more severe in R1205H. VWF knockout mice received hydrodynamic injections of mouse Vwf cDNA. Lower VWF antigen levels were demonstrated in both homozygous and heterozygous forms for both type 1 mutations from days 14-42… Expand
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Genetic Variation in the von Willebrand Factor Gene in Swedish von Willebrand Disease Patients
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