Bernard-Soulier syndrome caused by a novel insertional mutation in the glycoprotein IBα gene

被引:0
|
作者
Nagel, T
Kim, HC
Yenerel, M
Pekçelen, Y
Mahley, RW
Afshar-Kharghan, V
López, JA
机构
[1] Baylor Coll Med, Houston, TX 77030 USA
[2] Gladstone Inst Cardiovasc Dis, San Francisco, CA USA
[3] Istanbul Sch Med, Istanbul, Turkey
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
2180
引用
收藏
页码:690 / 690
页数:1
相关论文
共 50 条
  • [11] Bernard-Soulier syndrome in a patient doubly heterozygous for two frameshift mutations in the glycoprotein Ibα gene
    Afshar-Kharghan, V
    Craig, FE
    López, JA
    BRITISH JOURNAL OF HAEMATOLOGY, 2000, 110 (04) : 919 - 924
  • [12] Low levels of CD9 coincidental with a novel nonsense mutation in glycoprotein Ibβ in a patient with Bernard-Soulier syndrome
    Jianlin Qiao
    Amanda K. Davis
    Marie-Christine Morel-Kopp
    Christopher M. Ward
    Elizabeth E. Gardiner
    Robert K. Andrews
    Annals of Hematology, 2015, 94 : 2069 - 2071
  • [13] Low levels of CD9 coincidental with a novel nonsense mutation in glycoprotein Ibβ in a patient with Bernard-Soulier syndrome
    Qiao, Jianlin
    Davis, Amanda K.
    Morel-Kopp, Marie-Christine
    Ward, Christopher M.
    Gardiner, Elizabeth E.
    Andrews, Robert K.
    ANNALS OF HEMATOLOGY, 2015, 94 (12) : 2069 - 2071
  • [14] Novel point mutation THR161 to met in the of the platelet glycoprotein IB alpha associated with Bernard-Soulier syndrome
    Ozelo, MC
    Annichino-Bizzacchi, JM
    Assis, AM
    Costa, FF
    Arruda, VR
    THROMBOSIS AND HAEMOSTASIS, 1999, : 691 - 691
  • [15] A missense mutation in glycoprotein (GP) Ibβ causes Bernard-Soulier syndrome and critical for expression of GPIX.
    Kurokawa, Y
    Ishida, F
    Koike, K
    Ito, S
    Furihata, K
    Kitano, K
    Kiyosawa, K
    Komiyama, A
    BLOOD, 1999, 94 (10) : 451A - 451A
  • [16] 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
  • [17] 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
  • [18] VARIATION IN SURFACE PLATELET GLYCOPROTEIN-IB EXPRESSION IN BERNARD-SOULIER SYNDROME
    POULSEN, LO
    TAANING, E
    HAEMOSTASIS, 1990, 20 (03) : 155 - 161
  • [19] A novel mutation in the GP1BA gene in Bernard-Soulier syndrome
    Ozdemir, Zeynep C.
    Kar, Yeter Duzenli
    Ceylaner, Serdar
    Bor, Ozcan
    BLOOD COAGULATION & FIBRINOLYSIS, 2020, 31 (01) : 83 - 86
  • [20] CYS209 SER MUTATION IN THE PLATELET MEMBRANE GLYCOPROTEIN IB-ALPHA GENE IS ASSOCIATED WITH BERNARD-SOULIER SYNDROME
    SIMSEK, S
    NORIS, P
    LOZANO, M
    PICO, M
    VONDEMBORNE, AEGK
    RIBERA, A
    GALLARDO, D
    BRITISH JOURNAL OF HAEMATOLOGY, 1994, 88 (04) : 839 - 844