Identification of a novel point mutation in platelet glycoprotein Ibα, Gly to Ser at residue 233, in a Japanese family with platelet-type von Willebrand disease.

被引：0
|
作者：
Matsubara, Y
Murata, M
Sugita, K
Ikeda, Y
机构：
[1] Keio Univ, Sch Med, Tokyo 108, Japan
[2] Dokkyo Univ, Sch Med, Mibu, Tochigi 32102, Japan
来源：
BLOOD | 2002年 / 100卷 / 11期
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：
42
引用
收藏
页码：14A / 15A
页数：2
相关论文
共 47 条
  • [1] Identification of a novel point mutation in platelet glycoprotein Ibα Gly to Ser at residue 233, in a Japanese family with platelet-type von Willebrand disease
    Matsubara, Y
    Murata, M
    Sugita, K
    Ikeda, Y
    [J]. JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2003, 1 (10) : 2198 - 2205
  • [2] A second report of platelet-type von Willebrand disease with a Gly233Ser mutation in the GPIBA gene
    Nurden, Paquita
    Lanza, Francois
    Bonnafous-Faurie, Cecile
    Nurden, Alan
    [J]. THROMBOSIS AND HAEMOSTASIS, 2007, 97 (02) : 319 - 321
  • [3] Visualizing the von Willebrand factor/glycoprotein Ib-IX axis with a platelet-type von Willebrand disease mutation
    Guerrero, Jose A.
    Kyei, Mark
    Russell, Susan
    Liu, Junling
    Gartner, T. Kent
    Storrie, Brian
    Ware, Jerry
    [J]. BLOOD, 2009, 114 (27) : 5541 - 5546
  • [4] SUBSTITUTION OF VAL FOR MET AT RESIDUE-239 OF PLATELET GLYCOPROTEIN IB-ALPHA IN JAPANESE PATIENTS WITH PLATELET-TYPE VON-WILLEBRAND-DISEASE
    TAKAHASHI, H
    MURATA, M
    MORIKI, T
    ANBO, H
    FURUKAWA, T
    NIKKUNI, K
    SHIBATA, A
    HANDA, M
    KAWAI, Y
    WATANABE, K
    IKEDA, Y
    [J]. BLOOD, 1995, 85 (03) : 727 - 733
  • [5] Visualizing the von willebrand factor/glycoprotein ib-IX axis in platelet-type von willebrand disease
    Guerrero, J. A.
    Russell, S.
    Gartner, T. K.
    Storrie, B.
    Ware, J.
    [J]. JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2009, 7 : 344 - 344
  • [6] Hyperfunctional platelets in a murine model of platelet-type von Willebrand disease.
    Ware, J
    Russell, S
    Dent, J
    Kanaji, T
    [J]. BLOOD, 2005, 106 (11) : 218A - 218A
  • [7] PLATELET-TYPE VON WILLEBRAND DISEASE PLATELET AGGREGATING FACTOR - A NOVEL FUNCTIONAL ASSAY OF VON WILLEBRAND FACTOR
    TAKAHASHI, H
    TATEWAKI, W
    HANANO, M
    SHIBATA, A
    [J]. THROMBOSIS RESEARCH, 1987, 48 (04) : 475 - 485
  • [8] PATIENTS WITH PLATELET-TYPE VONWILLEBRAND DISEASE ARE HETEROZYGOUS FOR A GLY TO VAL SUBSTITUTION AT RESIDUE 233 OF PLATELET GPIB-ALPHA
    MILLER, JL
    CUNNINGHAM, D
    LYLE, VA
    FINCH, CN
    BASURTOGARCIA, MA
    [J]. CIRCULATION, 1990, 82 (04) : 595 - 595
  • [9] Alterations in the intrinsic properties of the GPIbα-VWF tether bond define the kinetics of the platelet-type von Willebrand disease mutation, Gly233Val
    Doggett, TA
    Girdhar, G
    Lawshe, A
    Miller, JL
    Laurenzi, IJ
    Diamond, SL
    Diacovo, TG
    [J]. BLOOD, 2003, 102 (01) : 152 - 160
  • [10] PATIENTS WITH PLATELET-TYPE VONWILLEBRAND DISEASE ARE HETEROZYGOUS FOR A GLY TO VAL SUBSTITUTION AT RESIDUE-233 OF PLATELET GPLB-ALPHA
    MILLER, JL
    CUNNINGHAM, D
    LYLE, VA
    FINCH, CN
    BASURTOGARCIA, MA
    [J]. ARTERIOSCLEROSIS, 1990, 10 (05): : A905 - A905
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