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Keyword - Bernard Soulier syndrome (KW-0087)

Definition

Protein which, if defective, causes Bernard Soulier syndrome (BSS), a familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption. BSS is caused by a genetic deficiency in platelet membrane glycoprotein Ib alpha chain and platelet glycoprotein IX, where platelets aggregate normally but do not stick to collagen of the sub-endothelial membrane.

Synonyms

  • BSS

Category

Disease

Graphical

Bernard Soulier syndromeDisease
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