Identification and functional characterization of a novel 27-bp deletion in the macroglycopeptide-coding region of the GPIBA gene resulting in platelet-type von Willebrand disease.

@article{Othman2005IdentificationAF,
  title={Identification and functional characterization of a novel 27-bp deletion in the macroglycopeptide-coding region of the GPIBA gene resulting in platelet-type von Willebrand disease.},
  author={M. Othman and C. Notley and F. L. Lavender and H. White and C. Byrne and D. Lillicrap and D. O'shaughnessy},
  journal={Blood},
  year={2005},
  volume={105 11},
  pages={
          4330-6
        }
}
Interaction between the platelet glycoprotein Ibalpha (GPIbalpha) receptor and its adhesive ligand von Willebrand factor (VWF) has a critical role in the process of hemostasis. Platelet-type von Willebrand disease (PT-VWD) is a rare bleeding disorder that results from gain-of-function mutations in the GPIBA gene. We studied this gene from 5 members of a previously unreported family with a PT-VWD phenotype. We identified a novel in-frame deletion of 27 base pair (bp) in the macroglycopeptide… Expand
Diagnosis of platelet-type von Willebrand disease by flow cytometry
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