Bernard-Soulier Syndrome due to GPIX W127X Mutation in Japan Is Frequently Misdiagnosed as Idiopathic Thrombocytopenic Purpura
Author:
Publisher
Springer Science and Business Media LLC
Subject
Hematology
Link
http://www.springerlink.com/index/pdf/10.1532/IJH97.06017
Reference8 articles.
1. Kunishima S, Kamiya T, Saito H. Genetic abnormalities of Bernard-Soulier syndrome. Int J Hematol. 2002;76:319-327.
2. Kunishima S, Saito H. Congenital macrothromboytopenias. Blood Reviews. 2006;20:111-121.
3. Hayashi T, Suzuki K, Yahagi A, et al. Corrected DNA sequence of the platelet glycoprotein IX gene. Thromb Haemost. 1997;77:1034-1035.
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;74:1411-1415.
5. Iwanaga M, Kunishima S, Ikeda S, Tomonaga M, Naoe T. Vulnerable mutation Trp126ˆstop of glycoprotein IX in Japanese Bernard-Soulier syndrome. Eur J Haematol. 1998;60:264-266.
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