Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia
GP1BB基因的罕见变异是常染色体显性遗传性巨血小板减少症的病因。
期刊:Blood
影响因子:23.1
doi:10.1182/blood-2016-08-732248
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