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Bernard-Soulier Syndrome - References


  1. Hillmann A., Shields D, Fitzgerald DJ., Kenny D. (2000) "Polymorphisms in glycoprotein Ib alpha are not associated with adverse outcomes in primigravidae." Journal of Obstetrics and Gynaecology 20:250-5.
  2. Muckian C, Hillmann A, Kenny D, Shields DC. (2000) "A novel variant of the glycoprotein Iba macroglycopeptide region lacks any copies of the 'perfect' amino acid repeat." Thrombosis and Haemostasis 83;513-4. [PubMed]
  3. Moran N, Morateck PA, Deering A, Ryan M, Montgomery RR, Fitzgerald DJ, Kenny D.  (2000) "The surface expression of glycoprotein Ib alpha is dependent on GPIb beta: Evidence from a novel mutation causing Bernard-Soulier syndrome" Blood 96;532-39. [PubMed]
  4. Dermot Kenny, Patricia A. Morateck, Joan C. Gill, and Robert R. Montgomery (1999). "The Critical Interaction of Glycoprotein (GP) Ib beta With GPIXA Genetic Cause of Bernard-Soulier Syndrome." Blood 93: 2968-2975. [PubMed]
  5. Kenny D, Morateck PA, Fahs SA, Warltier DC, Montgomery RR (1999) "Cloning and expression of canine glycoprotein Ib alpha." Thrombosis and Haemostasis 82:1327-33. [PubMed]
  6. Dermot Kenny, Ólafur G. Jónsson, Patricia A. Morateck, and Robert R. Montgomery (1998). "Naturally Occurring Mutations in Glycoprotein Ib alpha That Result in Defective Ligand Binding and Synthesis of a Truncated Protein." Blood 92: 175-183. [PubMed]
  7. José A. López, Robert K. Andrews, Vahid Afshar-Kharghan, and Michael C . Berndt (1998). "Bernard-Soulier Syndrome." Blood 91: 4397-4418. [PubMed]
  8. Ware, J. (1998). "Molecular analysis of the platelet glycoprotein Ib-IX-V receptor." Throm Haemost 79: 466-78. [PubMed]
  9. Clemetson, J. M., P. A. Kyrle, et al. (1994). "Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX." Blood 84: 1124-31. [PubMed]
  10. Miller, J. L., V. A. Lyle, et al. (1992). "Mutation of leucine-57 to phenylalanine in a platelet glycoprotin Iba leucine tandem repeat occuring in patients with an autosomal dominant variant of Bernard-Soulier disease." Blood 79: 439-446. [PubMed]
  11. Berndt, M. C., D. J. Fournier, et al. (1989). "Bernard-Soulier Syndrome." Bailliere's Clin. Haematology 2: 585-607. [PubMed]


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