Article
Molecular basis of Bernard-Soulier syndrome in 27 patients from India.
Journal of thrombosis and haemostasis : JTH - 1 Aug 2011
Sumitha E, Jayandharan G R, David S, Jacob R R, Sankari Devi G, Bargavi B, Shenbagapriya S, Nair S C, Abraham A, George B, Viswabandya A, Mathews V, Chandy M, Srivastava A
Abstract excerpt
BACKGROUND: Bernard-Soulier syndrome (BSS) is an extremely rare (1:1 million) bleeding disorder of platelet adhesion, caused by defects in the glycoprotein (GP)Ib/IX/V complex. PATIENTS AND METHODS: The diagnosis in 27 patients was based on low platelet count, presence of giant platelets and aggregometry studies. Flow cytometry to assess the surface GPIb/IX/V complex showed reduced (7.7-57%) expression. gDNA was...
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