Enhanced binding of GP1BA variant to VWF multimer:collagen

The Reactome event describes gain-of-function variants of glycoprotein Ib α (GPIbα, encoded by GP1BA) that cause macrothrombocytopenia and mucocutaneous bleeding in patients with platelet-type von Willebrand disease (PT-VWD) due to enhanced affinity for von Willebrand factor (VWF).Reactome事件描述了糖蛋白Ibα（GPIbα，由GP1BA编码）的获得功能变异，这些变异导致血小板型冯·维勒布兰德病（PT-VWD）患者的巨血小板减少症和黏膜皮肤出血，其原因是增强了对冯·维勒布兰德因子（VWF）的亲和力。