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 [J].
Mahfouz, Rami A. ;
Bolz, Hanno J. ;
Otrock, Zaher K. ;
Bergmann, Carsten ;
Muwakkit, Samar .
BLOOD COAGULATION & FIBRINOLYSIS, 2012, 23 (04) :335-337
[42]   Amelioration of the macrothrombocytopenia associated with the murine Bernard-Soulier syndrome [J].
Kanaji, T ;
Russell, S ;
Ware, 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 [J].
Ozelo, MC ;
Annichino-Bizzacchi, JM ;
Assis, AM ;
Costa, FF ;
Arruda, VR .
THROMBOSIS AND HAEMOSTASIS, 1999, :691-691
[44]   Bernard–Soulier syndrome: novel nonsense mutation in GPIbβ gene affecting GPIb–IX complex expression [J].
Basma Hadjkacem ;
Henda Elleuch ;
Jalel Gargouri ;
Ali Gargouri .
Annals of Hematology, 2009, 88 :465-472
[45]   Neurosurgery in a patient with Bernard-Soulier Syndrome [J].
Saidenberg, E. ;
Lacasse, L. ;
Tinmouth, A. ;
Kassam, A. .
HAEMOPHILIA, 2012, 18 :158-158
[46]   Genetic abnormalities of Bernard-Soulier syndrome [J].
Kunishima, S ;
Kamiya, T ;
Saito, H .
INTERNATIONAL JOURNAL OF HEMATOLOGY, 2002, 76 (04) :319-327
[47]   Surface expression of glycoprotein Ibα is dependent on glycoprotein Ibβ:: evidence from a novel mutation causing Bernard-Soulier syndrome [J].
Moran, N ;
Morateck, PA ;
Deering, A ;
Ryan, M ;
Montgomery, RR ;
Fitzgerald, DJ ;
Kenny, D .
BLOOD, 2000, 96 (02) :532-539
[48]   FEATURES OF DIAGNOSTICS OF BERNARD-SOULIER SYNDROME [J].
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 .
GEMATOLOGIYA I TRANSFUZIOLOGIYA, 2016, 61 (04) :217-221
[49]   PREGNANCY AND DELIVERY IN BERNARD-SOULIER SYNDROME [J].
MICHALAS, S ;
MALAMITSIPUCHNER, A ;
TSEVRENIS, H .
ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA, 1984, 63 (02) :185-186
[50]   Bernard-Soulier syndrome in a Turkish family [J].
Okan, V ;
Araz, M ;
Camci, C ;
Aktaran, S ;
Sahin, A ;
Buyukberber, S ;
Bakir, K ;
Cakmak, EA .
INTERNATIONAL JOURNAL OF CLINICAL PRACTICE, 2002, 56 (07) :546-548
12345