Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder.

@article{Kunishima1997MissenseMO,
  title={Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder.},
  author={Shinji Kunishima and Jose Alejandro Poveda Lopez and Sumiko Kobayashi and Norikazu Imai and Tadashi Kamiya and Hidehiko Saito and Tomoki Naoe},
  journal={Blood},
  year={1997},
  volume={89 7},
  pages={2404-12}
}
We describe here the molecular basis of an isolated hereditary giant platelet disorder (GPD) which is not accompanied with thrombocytopenia or leukocyte inclusion. Platelet aggregation with ristocetin and botrocetin was almost normal in this patient. Flow cytometric analysis showed that the glycoprotein (GP) Ib/IX complex was expressed on the platelet… CONTINUE READING