Bleeding disorder platelet-type

[1]. A Dominant-Negative GFI1B Mutation in the Gray Platelet Syndrome. N Engl J Med. 2015 Aug 20;373(8):782. [Content Brief]

[2]. C Hermans, et al. A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder. J Thromb Haemost. 2009 Aug;7(8):1356-63. [Content Brief]

[3]. Cedric Ghevaert, et al. A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia. Blood. 2008 Apr 1;111(7):3407-14. [Content Brief]

[4]. Eliane Berrou, et al. A mutation of the human EPHB2 gene leads to a major platelet functional defect. Blood. 2018 Nov 8;132(19):2067-2077. [Content Brief]

[5]. Marco Cattaneo, et al. Molecular bases of defective signal transduction in the platelet P2Y12 receptor of a patient with congenital bleeding. Proc Natl Acad Sci U S A. 2003 Feb 18;100(4):1978-83. [Content Brief]

[6]. Matthias Canault, et al. Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding. J Exp Med. 2014 Jun 30;211(7):1349-62. [Content Brief]

[7]. Paul Saultier, et al. Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features. Haematologica. 2017 Jun;102(6):1006-1016. [Content Brief]

[8]. Sarah J Fletcher, et al. SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects. J Clin Invest. 2015 Sep;125(9):3600-5. [Content Brief]

[9]. Shinji Kunishima, et al. ACTN1 mutations cause congenital macrothrombocytopenia. Am J Hum Genet. 2013 Mar 7;92(3):431-8. [Content Brief]

[10]. Shinji Kunishima, et al. Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia. Blood. 2011 May 19;117(20):5479-84. [Content Brief]

[11]. Thomas J Kunicki, et al. Platelet adhesion to decorin but not collagen I correlates with the integrin α2 dimorphism E534K, the basis of the human platelet alloantigen (HPA)-5 system. Haematologica. 2012 May;97(5):692-5. [Content Brief]

[12]. Vladimir T Manchev, et al. A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene. Blood. 2014 Oct 16;124(16):2554-63. [Content Brief]