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4. A missense mutation (Tyr88 to Cys) in the platelet membrane glycoprotein Ibbeta gene affects GPIb/IX complex expression--Bernard-Soulier syndrome in the homozygous form and giant platelets in the heterozygous form. Kurokawa Y; Ishida F; Kamijo T; Kunishima S; Kenny D; Kitano K; Koike K Thromb Haemost; 2001 Nov; 86(5):1249-56. PubMed ID: 11816714 [TBL] [Abstract][Full Text] [Related]
5. Homozygous Pro74-->Arg mutation in the platelet glycoprotein Ibbeta gene associated with Bernard-Soulier syndrome. Kunishima S; Tomiyama Y; Honda S; Fukunishi M; Hara J; Inoue C; Kamiya T; Saito H Thromb Haemost; 2000 Jul; 84(1):112-7. PubMed ID: 10928480 [TBL] [Abstract][Full Text] [Related]
6. 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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8. 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]
9. 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]
10. Bernard-Soulier syndrome with severe bleeding: absent platelet glycoprotein Ib alpha due to a homozygous one-base deletion. Li C; Pasquale DN; Roth GJ Thromb Haemost; 1996 Nov; 76(5):670-4. PubMed ID: 8950770 [TBL] [Abstract][Full Text] [Related]
11. 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. Noda M; Fujimura K; Takafuta T; Shimomura T; Fujii T; Katsutani S; Fujimoto T; Kuramoto A; Yamazaki T; Mochizuki T; Matsuzaki M; Sano M Thromb Haemost; 1996 Dec; 76(6):874-8. PubMed ID: 8972003 [TBL] [Abstract][Full Text] [Related]
12. A common ancestral glycoprotein (GP) 9 1828A>G (Asn45Ser) gene mutation occurring in European families from Australia and Northern Europe with Bernard-Soulier Syndrome (BSS). Liang HP; Morel-Kopp MC; Clemetson JM; Clemetson KJ; Kekomaki R; Kroll H; Michaelides K; Tuddenham EG; Vanhoorelbeke K; Ward CM Thromb Haemost; 2005 Sep; 94(3):599-605. PubMed ID: 16268478 [TBL] [Abstract][Full Text] [Related]
13. A novel homozygous 8-base pair deletion mutation in the glycoprotein Ibalpha gene in a patient with Bernard-Soulier syndrome. Imai C; Kunishima S; Takachi T; Iwabuchi H; Nemoto T; Imamura M; Uchiyama M Blood Coagul Fibrinolysis; 2009 Sep; 20(6):470-4. PubMed ID: 19448529 [TBL] [Abstract][Full Text] [Related]
14. Novel mutation in the glycoprotein Ibβ in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity. Mahfouz RA; Bolz HJ; Otrock ZK; Bergmann C; Muwakkit S Blood Coagul Fibrinolysis; 2012 Jun; 23(4):335-7. PubMed ID: 22343686 [TBL] [Abstract][Full Text] [Related]
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18. [Molecular biological study of glycoprotein IX gene defect in Bernard-Soulier syndrome]. Zhao XJ; Wang ZY; Duan WM; Fu JX; Lu ME; Wang JM; Bai X; Ruan CG Zhonghua Xue Ye Xue Za Zhi; 2003 Sep; 24(9):480-3. PubMed ID: 14575593 [TBL] [Abstract][Full Text] [Related]
19. A case of Bernard-Soulier Syndrome due to a homozygous four bases deletion (TGAG) of GPIbalpha gene: lack of GPIbalpha but absence of bleeding. Vettore S; Scandellari R; Scapin M; Lombardi AM; Duner E; Randi ML; Fabris F Platelets; 2008 Aug; 19(5):388-91. PubMed ID: 18791947 [TBL] [Abstract][Full Text] [Related]
20. [A novel point mutation in the transmembrane domain of platelet glycoprotein IX gene identified in a Bernard-Soulier syndrome patient]. Wang Z; Shi J; Han Y Zhonghua Xue Ye Xue Za Zhi; 2001 Sep; 22(9):464-6. PubMed ID: 11758225 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]