Mutation of Cys8 (TGT)→arg (CGT) in glycoprotein IX in a patient with Bernard-Soulier syndrome

被引:0
|
作者
Nagel, T
Kim, HC
Afshar-Kharghan, V
Mahley, RW
López, JA
机构
[1] Baylor Coll Med, Houston, TX 77030 USA
[2] Gladstone Inst Cardiovasc Dis, San Francisco, CA USA
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
2179
引用
收藏
页码:690 / 690
页数:1
相关论文
共 50 条
  • [1] Cys97→Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome
    Kunishima, S
    Tomiyama, Y
    Honda, S
    Kurata, Y
    Kamiya, T
    Ozawa, K
    Saito, H
    BRITISH JOURNAL OF HAEMATOLOGY, 1999, 107 (03) : 539 - 545
  • [2] Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome
    Rivera, CE
    Villagra, J
    Riordan, M
    Williams, S
    Lindstrom, KJ
    Rick, ME
    BRITISH JOURNAL OF HAEMATOLOGY, 2001, 112 (01) : 105 - 108
  • [3] Homozygous inheritance of the Cys8Arg mutation in the amino-terminal region of platelet glycoprotein IX in a family with Bernard-Soulier syndrome.
    Finch, CN
    Rombough, I
    Moffatt, DM
    Smith, JW
    Santos, A
    Moore, JC
    Kelton, JG
    BLOOD, 2003, 102 (11) : 784A - 785A
  • [4] A novel mutation in the transmembrane region of glycoprotein IX associated with Bernard-Soulier syndrome
    Wang, ZY
    Zhao, XJ
    Duan, WM
    Fu, JX
    Lu, MG
    Wang, GM
    Bai, X
    Ruan, CG
    THROMBOSIS AND HAEMOSTASIS, 2004, 92 (03) : 606 - 613
  • [5] Recurrent mutation Asn45->Ser of glycoprotein IX in Bernard-Soulier syndrome
    Donner, M
    Karpman, D
    Kristoffersson, AC
    Winqvist, I
    Holmberg, L
    EUROPEAN JOURNAL OF HAEMATOLOGY, 1996, 57 (02) : 178 - 179
  • [6] NONSENSE MUTATION IN THE GLYCOPROTEIN-IX CODING SEQUENCE ASSOCIATED WITH BERNARD-SOULIER SYNDROME
    NODA, M
    TAKAFUTA, T
    SHIMOMURA, T
    FUJIMOTO, T
    YAMAMOTO, M
    TANOUE, K
    SUEHIRO, K
    KAKISHITA, E
    FUJIMURA, K
    KURAMOTO, A
    BLOOD, 1994, 84 (10) : A472 - A472
  • [7] A point mutation in glycoprotein IX coding sequence (Cys(73)(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
    THROMBOSIS AND HAEMOSTASIS, 1996, 76 (06) : 874 - 878
  • [8] Recurrent mutation Trp126 → stop of glycoprotein IX in Japanese Bernard-Soulier syndrome
    Toyohama, T
    Nagasaki, A
    Gushi, K
    Tamaki, K
    Masuda, M
    Takasu, N
    PLATELETS, 2003, 14 (03) : 197 - 198
  • [9] Familial Bernard-Soulier syndrome due to a novel ins/del mutation in glycoprotein IX.
    Cutler, J
    Mitchell, M
    Goubran, H
    Savidge, GF
    BLOOD, 2005, 106 (11) : 615A - 615A
  • [10] Vulnerable mutation Trp126→stop of glycoprotein IX in Japanese Bernard-Soulier syndrome
    Iwanaga, M
    Kunishima, S
    Ikeda, S
    Tomonaga, M
    Naoe, T
    EUROPEAN JOURNAL OF HAEMATOLOGY, 1998, 60 (04) : 264 - 266