Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

Sivapalaratnam, Suthesh ; Westbury, Sarah K. ; Stephens, Jonathan C. ; Greene, Daniel ; Downes, Kate ; Kelly, Anne M. ; Lentaigne, Claire ; Astle, William J. ; Huizinga, Eric G. ; Nurden, Paquita ; Papadia, Sofia ; Peerlinck, Kathelijne ; Penkett, Christopher J. ; Perry, David J. ; Roughley, Catherine ; Simeoni, Ilenia ; Stirrups, Kathleen ; Hart, Daniel P. ; Tait, R.Campbell ; Mumford, Andrew D. ; Laffan, Michael A. ; Freson, Kathleen ; Ouwehand, Willem H. ; Kunishima, Shinji ; Turro, Ernest

Blood, 2017-01, Vol.129 (4), p.520-524 [Periódico revisado por pares]

United States: Elsevier Inc

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