Novel point mutation in the leucine rich motif of platelet glycoprotein IX associated with Bernard-Soulier syndrome

被引：0
|
作者：
Suzuki, K [1 ]
Hayashi, T [1 ]
Yahagi, A [1 ]
Akiba, J [1 ]
Tajima, K [1 ]
Satoh, S [1 ]
Sasaki, H [1 ]
机构：
[1] YAMAGATA UNIV, SCH MED, DEPT INTERNAL MED 3, YAMAGATA 99023, JAPAN
来源：
THROMBOSIS AND HAEMOSTASIS | 1997年
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：
引用
收藏
页码：PS279 / PS279
页数：1
相关论文
共 50 条
  • [31] Platelet functional alterations in a Bernard-Soulier syndrome patient with filamin A mutation
    Li, Jiaming
    Dai, KeSheng
    Wang, Zhaoyue
    Cao, Lijuan
    Bai, Xia
    Ruan, Changgeng
    JOURNAL OF HEMATOLOGY & ONCOLOGY, 2015, 8
  • [32] Platelet functional alterations in a Bernard-Soulier syndrome patient with filamin A mutation
    Jiaming Li
    KeSheng Dai
    Zhaoyue Wang
    Lijuan Cao
    Xia Bai
    Changgeng Ruan
    Journal of Hematology & Oncology, 8
  • [33] NONSENSE MUTATION IN THE GLYCOPROTEIN IB-ALPHA CODING SEQUENCE ASSOCIATED WITH BERNARD-SOULIER SYNDROME
    WARE, J
    RUSSELL, SR
    VICENTE, V
    SCHARF, RE
    TOMER, A
    MCMILLAN, R
    RUGGERI, ZM
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1990, 87 (05) : 2026 - 2030
  • [34] Bernard-Soulier syndrome - An inherited platelet disorder
    Pham, Angie
    Wang, Jun
    ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE, 2007, 131 (12) : 1834 - 1836
  • [35] Novel mutation in the glycoprotein Ibβ in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity
    Mahfouz, Rami A.
    Bolz, Hanno J.
    Otrock, Zaher K.
    Bergmann, Carsten
    Muwakkit, Samar
    BLOOD COAGULATION & FIBRINOLYSIS, 2012, 23 (04) : 335 - 337
  • [36] PLATELET SPECIFIC PROTEINS IN BERNARD-SOULIER SYNDROME
    DEVARAJ, R
    PROWSE, C
    DAWES, J
    TOOLIS, F
    THROMBOSIS AND HAEMOSTASIS, 1979, 42 (04) : 1349 - 1349
  • [37] The platelet transcriptome is different in Bernard-Soulier Syndrome
    Hillmann, AG
    Kenny, D
    BLOOD, 2000, 96 (11) : 53B - 53B
  • [38] A CASE OF BERNARD-SOULIER SYNDROME - STUDY OF PLATELET GLYCOPROTEIN-IB IN A KINDRED
    INGERSLEV, J
    STENBJERG, S
    TAANING, E
    EUROPEAN JOURNAL OF HAEMATOLOGY, 1987, 39 (02) : 182 - 184
  • [39] Single novel mutation in transmembrane region of glycoprotein (GP) IX affects GP Ib- IX complex expression and causes Bernard-Soulier syndrome
    Xu, Li-min
    Sun, Guang-bin
    Wang, Peng
    Sun, Na
    Hu, Qiu-ping
    Cao, Fan-fan
    Peng, Bin
    Zhang, Deng-hai
    BRITISH JOURNAL OF HAEMATOLOGY, 2010, 150 (05) : 627 - 629
  • [40] VARIATION IN SURFACE PLATELET GLYCOPROTEIN-IB EXPRESSION IN BERNARD-SOULIER SYNDROME
    POULSEN, LO
    TAANING, E
    HAEMOSTASIS, 1990, 20 (03) : 155 - 161
12345