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Article

Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX.

Blood - 15 Aug 1994

Clemetson J M, Kyrle P A, Brenner B, Clemetson K J

Abstract excerpt

We describe a new variant of Bernard-Soulier syndrome. The patient (W.K.) showed the classic bleeding symptoms together with absence of platelet agglutination to restocetin plus von Willebrand factor, whereas aggregation to ADP, collagen, and arachidonic acid was normal. Platelets were markedly larger than normal and the patient had life-long thrombocytopenia. Surface-labeling of the platelets and two-dimensional...

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PMID: 8049428

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GPI

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