| 1 | 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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| 2 | GP9, GP1BC
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| Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome.
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| Drouin J, Carson NL, Laneuville O.
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| Am J Hematol 78(1):41-8. 2005
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| 3 | 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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| 4 | GP9, GP1BC
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| A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome.
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| Noris P, Simsek S, Stibbe J, von dem Borne AE.
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| Br J Haematol 97(2):312-20. 1997
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| 5 | GP9, GP1BC
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| Novel point mutation in the leucine-rich motif of the platelet glycoprotein IX associated with Bernard-Soulier syndrome.
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| Suzuki K, Hayashi T, Yahagi A, Akiba J, Tajima K, Satoh S, Sasaki H.
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| Br J Haematol 99(4):794-800. 1997
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| 6 | GP9, GP1BC
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| A point mutation in glycoprotein IX coding sequence (Cys73(TGT) to Tyr(TAT)) causes impaired surface expression of GPIb/IX/V complex in two families with Bernard-Soulier syndrome.
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| Noda M, et al.
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| Thromb Haemost 76 : 874-878. 1996
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| 7 | GP5, GP9, GP1BC
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| Human platelet glycoproteins V and IX : mapping of two leucine-rich glycoprotein genes to chromosome 3 and analysis of structures.
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| Yagi M, et al.
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| Biochemistry 34 : 16132-16137. 1995
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| 8 | GP1BA, GP9, GP1BC
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| Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome.
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| Wright SD, et al.
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| Blood 81 : 2339-2347. 1993
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| 9 | GP9, GP1BC
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| Human platelet glycoprotein IX. Characterization of cDNA and localization of the gene to chromosome 3.
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| Hickey MJ, et al.
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| FEBS Lett 274 : 189-192. 1990
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