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3. Novel nonsense mutation in the platelet glycoprotein Ibbeta gene associated with Bernard-Soulier syndrome. Kunishima S; Matsushita T; Ito T; Kamiya T; Saito H Am J Hematol; 2002 Dec; 71(4):279-84. PubMed ID: 12447957 [TBL] [Abstract][Full Text] [Related]
4. Molecular genetic analysis of a variant Bernard-Soulier syndrome due to compound heterozygosity for two novel glycoprotein Ibbeta mutations. Kunishima S; Sako M; Yamazaki T; Hamaguchi M; Saito H Eur J Haematol; 2006 Dec; 77(6):501-12. PubMed ID: 16978236 [TBL] [Abstract][Full Text] [Related]
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9. A Novel Homozygous c.800C>G Substitution in GP1BA Exon 2 in a Kuwaiti Family with Bernard-Soulier Syndrome. Shlebak A; Poles A; Manning R; Almuhareb S; De La Funte J; Mitchell M; Lucas G Acta Haematol; 2015; 134(3):193-8. PubMed ID: 26044173 [TBL] [Abstract][Full Text] [Related]
10. A novel hemizygous Bernard-Soulier Syndrome (BSS) mutation in the amino terminal domain of glycoprotein (GP)Ibbeta--platelet characterization and transfection studies. Hillmann A; Nurden A; Nurden P; Combrié R; Claeyssens S; Moran N; Kenny D Thromb Haemost; 2002 Dec; 88(6):1026-32. PubMed ID: 12529755 [TBL] [Abstract][Full Text] [Related]
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18. A Case of Bernard-Soulier Syndrome due to a Novel Homozygous Missense Mutation in an Exon of the GP1BA Gene. Li X; Wang S; Wu J; Wang H; Wang J; Dong X; Zhang N Acta Haematol; 2020; 143(1):60-64. PubMed ID: 31302646 [TBL] [Abstract][Full Text] [Related]
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20. 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. Drouin J; Carson NL; Laneuville O Am J Hematol; 2005 Jan; 78(1):41-8. PubMed ID: 15609295 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]