NONSENSE MUTATION IN THE GLYCOPROTEIN-IX CODING SEQUENCE ASSOCIATED WITH BERNARD-SOULIER SYNDROME

被引：0
|
作者：
NODA, M
TAKAFUTA, T
SHIMOMURA, T
FUJIMOTO, T
YAMAMOTO, M
TANOUE, K
SUEHIRO, K
KAKISHITA, E
FUJIMURA, K
KURAMOTO, A
机构：
[1] HIROSHIMA UNIV,RADIAT BIOL & MED RES INST,DEPT HEMATOL & ONCOL,DIV CLIN RES,HIROSHIMA 730,JAPAN
[2] TOKYO METROPOLITAN INST MED SCI,DEPT CARDIOVASC RES,TOKYO 113,JAPAN
[3] HYOGO MED UNIV,DEPT INTERNAL MED 2,NISHINOMIYA,HYOGO 663,JAPAN
来源：
BLOOD | 1994年 / 84卷 / 10期
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：A472 / A472
页数：1
相关论文
共 50 条
  • [41] 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
    [J]. BLOOD COAGULATION & FIBRINOLYSIS, 2012, 23 (04) : 335 - 337
  • [42] Amelioration of the macrothrombocytopenia associated with the murine Bernard-Soulier syndrome
    Kanaji, T
    Russell, S
    Ware, J
    [J]. BLOOD, 2002, 100 (06) : 2102 - 2107
  • [43] 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
    [J]. THROMBOSIS AND HAEMOSTASIS, 1999, : 691 - 691
  • [44] Bernard–Soulier syndrome: novel nonsense mutation in GPIbβ gene affecting GPIb–IX complex expression
    Basma Hadjkacem
    Henda Elleuch
    Jalel Gargouri
    Ali Gargouri
    [J]. Annals of Hematology, 2009, 88 : 465 - 472
  • [45] Genetic abnormalities of Bernard-Soulier syndrome
    Kunishima, S
    Kamiya, T
    Saito, H
    [J]. INTERNATIONAL JOURNAL OF HEMATOLOGY, 2002, 76 (04) : 319 - 327
  • [46] Neurosurgery in a patient with Bernard-Soulier Syndrome
    Saidenberg, E.
    Lacasse, L.
    Tinmouth, A.
    Kassam, A.
    [J]. HAEMOPHILIA, 2012, 18 : 158 - 158
  • [47] Surface expression of glycoprotein Ibα is dependent on glycoprotein Ibβ:: evidence from a novel mutation causing Bernard-Soulier syndrome
    Moran, N
    Morateck, PA
    Deering, A
    Ryan, M
    Montgomery, RR
    Fitzgerald, DJ
    Kenny, D
    [J]. BLOOD, 2000, 96 (02) : 532 - 539
  • [48] FEATURES OF DIAGNOSTICS OF BERNARD-SOULIER SYNDROME
    Kumskova, M. A.
    Yastrubinetskayc, O., I
    Likhachyova, E. A.
    Vasiliev, S. A.
    Dvirnyk, V. N.
    Konyashina, N., I
    Al-Radi, L. S.
    Moiseeva, T. N.
    Zozulya, N., I
    [J]. GEMATOLOGIYA I TRANSFUZIOLOGIYA, 2016, 61 (04): : 217 - 221
  • [49] PREGNANCY AND DELIVERY IN BERNARD-SOULIER SYNDROME
    MICHALAS, S
    MALAMITSIPUCHNER, A
    TSEVRENIS, H
    [J]. ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA, 1984, 63 (02) : 185 - 186
  • [50] HEMOBILIA IN A CASE OF BERNARD-SOULIER SYNDROME
    TANAKA, J
    FUJIMOTO, K
    IWAKIRI, R
    MATSUZAKI, M
    SHIMAMOTO, Y
    [J]. AMERICAN JOURNAL OF GASTROENTEROLOGY, 1993, 88 (12): : 2142 - 2143
12345