Platelet-type von Willebrand disease: new insights into the molecular pathophysiology of a unique platelet defect.

@article{Othman2013PlatelettypeVW,
  title={Platelet-type von Willebrand disease: new insights into the molecular pathophysiology of a unique platelet defect.},
  author={Maha W. Othman and Harmanpreet Kaur and Jonas Emsley},
  journal={Seminars in thrombosis and hemostasis},
  year={2013},
  volume={39 6},
  pages={663-73}
}
Compared with coagulation factor defects, little attention is given to defects of platelet function as causes of rare bleeding disorders. Platelet-type von Willebrand disease (PT-VWD) is an autosomal dominant bleeding disorder and is unique among platelet disorders because it is characterized by platelet hyperresponsiveness rather than decreased function. The disease is caused by gain-of-function mutations in the platelet GP1BA gene, which codes for the platelet von Willebrand factor (VWF… CONTINUE READING

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