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- W2028625803 abstract "Two unrelated patients with Bernard-Soulier syndrome and their relatives were studied. The patients demonstrated severe bleeding diathesis, the relatives were asymptomatic. The propositi showed the characteristic abnormalities of the syndrome: thrombocytopenia, a percentage of giant platelets higher than 65%, prolonged bleeding time and defective platelet aggregation to ristocetin and bovine plasma. On the contrary, in the heterozygotes, the typical abnormalities were not fully evident. We introduce a simple ELISA method for the precise definition of both homozygous and heterozygous states for the syndrome by the quantitation of platelet glycoprotein (GP) Ib. Specific binding of monoclonal antibodies anti-platelet GPIb was performed both by direct binding of radioiodinated antibody and by ELISA. Comparable results were obtained. In fact, we demonstrated near absence of GPIb in the 2 propositi and about half the amount in the heterozygotes studied compared to normal platelets." @default.
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- W2028625803 date "1986-01-01" @default.
- W2028625803 modified "2023-09-26" @default.
- W2028625803 title "Bernard-Soulier Syndrome: Diagnosis by an ELISA Method Using Monoclonal Antibodies in 2 New Unrelated Patients" @default.
- W2028625803 doi "https://doi.org/10.1159/000206125" @default.
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