1 | GP1BB, GP9
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| Binding of platelet glycoprotein Ibbeta through the convex surface of leucine-rich repeats domain of glycoprotein IX.
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| Mo X, Nguyen NX, McEwan PA, Zheng X, Lpez JA, Emsley J, Li R.
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| J Thromb Haemost 7(9):1533-40. Epub 2009 Jun 29.PMID: 19566547 2009
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2 | GP1BB, GP9
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| Specific heteromeric association of four transmembrane peptides derived from platelet glycoprotein Ib-IX complex.
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| Luo SZ, Li R.
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| J Mol Biol 382(2):448-57. Epub 2008 Jul 22.PMID: 18674540 2008
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3 | GP1BA, GP1BB, GP1BC, GP9
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| Genetic characterization of patients with Bernard-Soulier syndrome and their relatives from Southern Iran.
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| Afrasiabi A, Lecchi A, Artoni A, Karimi M, Ashouri E, Peyvandi F, Mannucci PM.
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| Platelets 18(6):409-13.
2007
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4 | GP1BB
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| Genetic deletion of mouse platelet glycoprotein Ibbeta produces a Bernard-Soulier phenotype with increased alpha-granule size.
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| Kato K, Martinez C, Russell S, Nurden P, Nurden A, Fiering S, Ware J.
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| Blood 104(8):2339-44. Epub 2004 Jun 22. 2004
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5 | GP1BA, GP1BB
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| Mutation in the leucine-rich repeat C-flanking region of platelet glycoprotein Ib beta impairs assembly of von Willebrand factor receptor.
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| Tang J, Stern-Nezer S, Liu PC, Matyakhina L, Riordan M, Luban NL, Steinbach PJ, Kaler SG.
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| Thromb Haemost 92(1):75-88.PMID: 15213848 2004
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6 | GP1BB
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| A novel hemizygous Bernard-Soulier Syndrome (BSS) mutation in the amino terminal domain of glycoprotein (GP)Ibbeta--platelet characterization and transfection studies.
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| Hillmann A, Nurden A, Nurden P, Combrie R, Claeyssens S, Moran N, Kenny D.
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| Thromb Haemost 88(6):1026-32. 2002
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7 | DEL22Q11, GP1BB
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| Bernard-Soulier syndrome associated with 22q11.2 microdeletion.
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| Nakagawa M, Okuno M, Okamoto N, Fujino H, Kato H.
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| Am J Med Genet 99(4):286-8. 2001
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8 | GP1BA, GP1BB, GP1BC, GP5, GP9
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| A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV.
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| Noris P, et al.
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| Br J Haematol 103(4):1004-13. 1998
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9 | GP1BB
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| Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder.
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| Kunishima S, et al.
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| Blood 89 : 2404-2412. 1997
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10 | GP1BB, SEPTIN5
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| Alternative expression of platelet glycoprotein Ibbeta mRNA from an adjacent 5' gene with an imperfect polyadenylation signal sequence.
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| Zieger B, Hashimoto Y, Ware J.
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| J Clin Invest 99 : 520-525. 1997
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11 | GP1BA, GP1BB
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| Molecular defects in the Bernard-Soulier syndrome : assessment of receptor genes, transcripts and proteins. Dfauts molculaires dans le syndrome de Bernard-Soulier, gnes des rcepteurs, protines et transcrits.
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| Roth GJ.
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| C R Acad Sci III 319 : 819-826. 1996
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12 | GP1BB
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| Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome.
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| Ludlow LB, et al.
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| J Biol Chem 271 : 22076-22080. 1996
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13 | DEL22Q11, GP1BB
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| Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/Velo-cardio-facial chromosomal region in 22q11.2.
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| Budarf ML, et al.
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| Hum Mol Genet 4 : 763-766. 1995
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14 | GP1BB
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| Structural characterization and chromosomal location of the gene encoding human platelet glycoprotein Ibbeta.
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| Yagi M, et al.
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| J Biol Chem 269 : 17424-17427. 1994
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15 | GP1BB
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| Complementary DNA cloning of the alternatively expressed endothelial cell glycoprotein Ibbeta (GPIb beta) and localization of the GPIb beta gene to chromosome 22.
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| Kelly MD, et al.
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| J Clin Invest 93 : 2417-2424. 1994
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16 | GP1BB
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| von Willebrand factor binding to platelet GpIb initiates signals for platelet activation.
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| Kroll MH, Harris TS, Moake JL, Handin RI, Schafer AI.
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| J Clin Invest 88(5):1568-73.PMID: 1939645 1991
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