Bernard-Soulier Syndrome due to GPIX W127X Mutation in Japan Is Frequently Misdiagnosed as Idiopathic Thrombocytopenic Purpura

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• 作者：Shinji Kunishima (1)
  Toshiki Yamada (3)
  Motohiro Hamaguchi (1)
  Hidehiko Saito (1)
  
• 刊名：International Journal of Hematology
• 出版年：2006
• 出版时间：May 2006
• 年：2006
• 卷：83
• 期：4
• 页码：366-367
• 全文大小：68KB
• 参考文献：1. Kunishima S, Kamiya T, Saito H. Genetic abnormalities of Bernard-Soulier syndrome. / Int J Hematol. 2002;76:319鈥?27. CrossRef
  2. Kunishima S, Saito H. Congenital macrothromboytopenias. / Blood Reviews. 2006;20:111鈥?21. CrossRef
  3. Hayashi T, Suzuki K, Yahagi A, et al. Corrected DNA sequence of the platelet glycoprotein IX gene. / Thromb Haemost. 1997;77:1034鈥?035.
  4. Noda M, Fujimura K, Takafuta T, et al. Heterogeneous expression of glycoprotein Ib, IX and V in platelets from two patients with Bernard-Soulier syndrome caused by different genetic abnormalities. / Thromb Haemost. 1995;74:1411鈥?415.
  5. Iwanaga M, Kunishima S, Ikeda S, Tomonaga M, Naoe T. Vulnerable mutation Trp126鈫抯top of glycoprotein IX in Japanese Bernard-Soulier syndrome. / Eur J Haematol. 1998;60:264鈥?66. CrossRef
  6. Toyohama T, Nagasaki A, Gushi K, Tamaki K, Masuda M, Takasu N. Recurrent mutation Trp126鈫抯top of glycoprotein IX in Japanese Bernard-Soulier syndrome. / Platelets. 2003;14:197鈥?98. CrossRef
  7. Kunishima S, Imai T, Hamaguchi M, Saito H. Novel heterozygous missense mutation in the second leucine rich repeat of GPIb伪 affects GPIb/IX/V expression and results in macrothrombocytopenia in a patient initially misdiagnosed with idiopathic thrombocytopenic purpura. / Eur J Haematol. 2006;76:348鈥?55. CrossRef
  8. Kunishima S, Yamazaki T, Matsushita T, Sako M, Hamaguchi M, Saito H. Variant Bernard-Soulier syndrome caused by compound herterozygous mutations in the GPIb尾 gene. / Platelets. 2004;15:374鈥?75.
  
• 作者单位：Shinji Kunishima (1)
  Toshiki Yamada (3)
  Motohiro Hamaguchi (1)
  Hidehiko Saito (1)
  
  1. Department of Hemostasis and Thrombosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya
  3. Department of Hematology, Gifu University School of Medicine, Gifu, Japan
  

文摘

This work was supported by grants-in-aid from the Japan Society for the Promotion of Science, Mitsubishi Pharma Research Foundation, and National Hospital Organization Research Fund.