Single novel mutation in transmembrane region of glycoprotein (GP) IX affects GP Ib- IX complex expression and causes Bernard-Soulier syndrome

被引:3
作者
Xu, Li-min [1 ]
Sun, Guang-bin [2 ]
Wang, Peng [3 ]
Sun, Na [2 ]
Hu, Qiu-ping [4 ]
Cao, Fan-fan [1 ]
Peng, Bin [1 ]
Zhang, Deng-hai [1 ]
机构
[1] Shanghai Gongli Hosp, Sino French Cooperat Cent Lab, Shanghai, Peoples R China
[2] ENT Dept SGH, Shanghai, Peoples R China
[3] Med Affair Dept SGH, Shanghai, Peoples R China
[4] Shanghai Majorbio Biopharm Technol Co Ltd, Shanghai, Peoples R China
关键词
platelet genetic diseases; glycoproteins; bleeding disorders; DNA mutation; Bernard-Soulier Syndrome; PATIENT;
D O I
10.1111/j.1365-2141.2010.08241.x
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:627 / 629
页数:3
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