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
  • [21] 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
  • [22] Cys97→Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome
    Kunishima, S
    Tomiyama, Y
    Honda, S
    Kurata, Y
    Kamiya, T
    Ozawa, K
    Saito, H
    BRITISH JOURNAL OF HAEMATOLOGY, 1999, 107 (03) : 539 - 545
  • [23] 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
  • [24] Familial Bernard-Soulier syndrome due to a novel ins/del mutation in glycoprotein IX.
    Cutler, J
    Mitchell, M
    Goubran, H
    Savidge, GF
    BLOOD, 2005, 106 (11) : 615A - 615A
  • [25] The critical interaction of glycoprotein (GP) Ibβ with GPIX -: A genetic cause of Bernard-Soulier syndrome
    Kenny, D
    Morateck, PA
    Gill, JC
    Montgomery, RR
    BLOOD, 1999, 93 (09) : 2968 - 2975
  • [26] A novel hemizygous Bernard-Soulier syndrome (BSS) mutation in the amino terminal domain of glycoprotein (GP)Ibβ platelet characterization and transfection studies
    Hillmann, A
    Nurden, A
    Nurden, P
    Combrié, R
    Claeyssens, S
    Moran, N
    Kenny, D
    THROMBOSIS AND HAEMOSTASIS, 2002, 88 (06) : 1026 - 1032
  • [27] Bernard-Soulier syndrome caused by a dinucleotide deletion and reading frameshift in the region encoding the glycoprotein Ib alpha transmembrane domain
    AfsharKharghan, V
    Lopez, JA
    BLOOD, 1997, 90 (07) : 2634 - 2643
  • [28] GP IB AND BERNARD-SOULIER PLATELETS
    NURDEN, AT
    JALLU, V
    HOURDILLE, P
    BLOOD, 1989, 73 (08) : 2225 - 2227
  • [29] Bernard-Soulier syndrome
    Berndt, Michael C.
    Andrews, Robert K.
    HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2011, 96 (03): : 355 - 359
  • [30] The Bernard-Soulier syndrome
    Konkle, BA
    TRENDS IN CARDIOVASCULAR MEDICINE, 1997, 7 (07) : 239 - 244
12345