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Article

Missense Mutations of the Glycoprotein (GP) Ibβ Gene Impairing the GPIb α/β Disulfide Linkage in a Family With Giant Platelet Disorder

1 Apr 1997

Abstract excerpt

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 membranes at decreased levels. The amount of platelet GPIb...

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PMID: 9116284
DOI: 10.1182/blood.v89.7.2404

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