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
来源：
THROMBOSIS AND HAEMOSTASIS | 1999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：
2180
引用
收藏
页码：690 / 690
页数：1
相关论文
共 50 条
  • [41] 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
  • [42] Bernard-Soulier syndrome in a patient doubly heterozygous for two frame shift mutations in the glycoprotein Ib alpha gene.
    AfsharKharghan, V
    Lopez, JA
    BLOOD, 1997, 90 (10) : 3001 - 3001
  • [43] Molecular genetic analysis of a variant Bernard-Soulier syndrome due to compound heterozygosity for two novel glycoprotein Ibβ mutations
    Kunishima, Shinji
    Sako, Masahiro
    Yamazaki, Tomio
    Hamaguchi, Motohiro
    Saito, Hidehiko
    EUROPEAN JOURNAL OF HAEMATOLOGY, 2006, 77 (06) : 501 - 512
  • [44] 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
  • [45] Bernard-Soulier Syndrome: An Update
    Andrews, Robert K.
    Berndt, Michael C.
    SEMINARS IN THROMBOSIS AND HEMOSTASIS, 2013, 39 (06): : 656 - 662
  • [46] Novel point mutation in the leucine-rich motif of the platelet glycoprotein IX associated with Bernard-Soulier syndrome
    Suzuki, K
    Hayashi, T
    Yahagi, A
    Akiba, J
    Tajima, K
    Satoh, S
    Sasaki, H
    BRITISH JOURNAL OF HAEMATOLOGY, 1997, 99 (04) : 794 - 800
  • [47] GP IB AND BERNARD-SOULIER PLATELETS - RESPONSE
    DROUIN, J
    IZAGUIRRE, CA
    MCGREGOR, JL
    PARMENTIER, S
    CLEMETSON, KJ
    BLOOD, 1989, 73 (08) : 2227 - 2227
  • [48] ON A CASE OF BERNARD-SOULIER SYNDROME
    VIOLANTE, N
    MINERVA PEDIATRICA, 1978, 30 (17) : 1405 - 1406
  • [49] Bernard-Soulier syndrome in pregnancy
    Prabu, P.
    Parapia, L. A.
    CLINICAL AND LABORATORY HAEMATOLOGY, 2006, 28 (03): : 198 - 201
  • [50] Delayed Atherosclerosis in a Mouse Model of Bernard-Soulier Syndrome is Independent of Glycoprotein Ibα Extracytoplasmic Domain Deficiency
    Koltsova, Ekaterina
    Sundd, Prithu
    Zarpellon, Alessandro
    Ruggeri, Zaverio M.
    Ley, Klaus
    ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 2014, 34
12345