Publication : Dr.Kunishima May 19, 2011. Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia. Kunishima S, Kashiwagi H, Otsu M, Takayama N, Eto K, Onodera M,Miyajima Y, Takamatsu Y, Suzumiya J, Matsubara K, Tomiyama Y, Saito H.Blood. 2011 May 19;117(20):5479-84. Epub 2011 Mar 31.PMID: 21454453 [PubMed – in process]