Familial Bernard-Soulier syndrome due to a novel ins/del mutation in glycoprotein IX.

被引：0
|
作者：
Cutler, J
Mitchell, M
Goubran, H
Savidge, GF
机构：
[1] St Thomas Hosp, Ctr Thrombosis & Haemostasis, London, England
[2] Cairo Univ, Fac Med, Cairo, Egypt
来源：
BLOOD | 2005年 / 106卷 / 11期
关键词：
D O I：
10.1182/blood.V106.11.2178.2178
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
2178
引用
收藏
页码：615A / 615A
页数：1
相关论文
共 50 条
  • [41] The surface expression of glycoprotein (GP) Ibα is dependent on GPIbβ -: Evidence from a novel mutation causing Bernard-Soulier syndrome.
    Moran, N
    Deering, A
    Ryan, M
    Fitzgerald, DJ
    Kenny, DJ
    BLOOD, 1999, 94 (10) : 443A - 443A
  • [42] 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
  • [43] 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
  • [44] 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
  • [45] QUANTITATIVE AND QUALITATIVE ABNORMALITIES OF GLYCOPROTEIN-IB(ALPHA) IN BERNARD-SOULIER SYNDROME
    ROIG, MJS
    RIVERA, J
    MORALEDA, JM
    NAVARRO, JL
    VICENTE, V
    THROMBOSIS AND HAEMOSTASIS, 1993, 69 (06) : 963 - 963
  • [46] VARIATION IN SURFACE PLATELET GLYCOPROTEIN-IB EXPRESSION IN BERNARD-SOULIER SYNDROME
    POULSEN, LO
    TAANING, E
    HAEMOSTASIS, 1990, 20 (03) : 155 - 161
  • [47] Identification of a mutation in a GATA binding site of the platelet glycoprotein Ib beta promoter resulting in the Bernard-Soulier Syndrome
    Ludlow, LB
    Schick, BP
    Budarf, ML
    Driscoll, DA
    Zackai, EH
    Cohen, A
    Konkle, BA
    JOURNAL OF BIOLOGICAL CHEMISTRY, 1996, 271 (36) : 22076 - 22080
  • [48] 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
  • [49] Homozygous Pro74 → Arg mutation in the platelet glycoprotein Ibβ gene associated with Bernard-Soulier syndrome
    Kunishima, S
    Tomiyama, Y
    Honda, S
    Fukunishi, M
    Hara, J
    Inoue, C
    Kamiya, T
    Saito, H
    THROMBOSIS AND HAEMOSTASIS, 2000, 84 (01) : 112 - 117
  • [50] VARIANT BERNARD-SOULIER SYNDROME TYPE BOLZANO - A CONGENITAL BLEEDING DISORDER DUE TO A STRUCTURAL AND FUNCTIONAL ABNORMALITY OF THE PLATELET GLYCOPROTEIN-IB-IX COMPLEX
    DEMARCO, L
    MAZZUCATO, M
    FABRIS, F
    DEROIA, D
    COSER, P
    GIROLAMI, A
    VICENTE, V
    RUGGERI, ZM
    JOURNAL OF CLINICAL INVESTIGATION, 1990, 86 (01): : 25 - 31
12345