von Willebrand disease type 2A phenotypes IIC, IID and IIE: A day in the life of shear-stressed mutant von Willebrand factor.

@article{Brehm2014vonWD,
  title={von Willebrand disease type 2A phenotypes IIC, IID and IIE: A day in the life of shear-stressed mutant von Willebrand factor.},
  author={Maria A Brehm and Volker Huck and Camilo Aponte-Santamar{\'i}a and Tobias Obser and Sandra Gr{\"a}ssle and F. G. F. Oyen and Ulrich Budde and Sonja Schneppenheim and Christina Baldauf and Frauke Gr{\"a}ter and S. W. Schneider and Reinhard Schneppenheim},
  journal={Thrombosis and haemostasis},
  year={2014},
  volume={112 1},
  pages={96-108}
}
The bleeding disorder von Willebrand disease (VWD) is caused by mutations of von Willebrand factor (VWF), a multimeric glycoprotein essential for platelet-dependent primary haemostasis. VWD type 2A-associated mutations each disrupt VWF biosynthesis and function at different stages, depending on the VWF domain altered by the mutation. These effects cause considerable heterogeneity in phenotypes and symptoms. To characterise the molecular mechanisms underlying the specific VWF deficiencies in VWD… CONTINUE READING

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