Novel point mutation in the leucine rich motif of platelet glycoprotein IX associated with Bernard-Soulier syndrome

被引：0
|
作者：
Suzuki, K [1 ]
Hayashi, T [1 ]
Yahagi, A [1 ]
Akiba, J [1 ]
Tajima, K [1 ]
Satoh, S [1 ]
Sasaki, H [1 ]
机构：
[1] YAMAGATA UNIV, SCH MED, DEPT INTERNAL MED 3, YAMAGATA 99023, JAPAN
来源：
THROMBOSIS AND HAEMOSTASIS | 1997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：
引用
收藏
页码：PS279 / PS279
页数：1
相关论文
共 50 条
  • [21] A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome
    Noris, P
    Simsek, S
    Stibbe, J
    vondemBorne, AEGK
    BRITISH JOURNAL OF HAEMATOLOGY, 1997, 97 (02) : 312 - 320
  • [22] HETEROGENEOUS EXPRESSION OF LEUCINE RICH GLYCOPROTEINS IN PLATELETS OF BERNARD-SOULIER SYNDROME
    TAKAFUTA, T
    NODA, M
    SHIMOMURA, T
    FUJIMOTO, T
    FUJIMURA, K
    KURAMOTO, A
    BLOOD, 1994, 84 (10) : A691 - A691
  • [23] Homozygous Pro74 → Arg mutation in the platelet glycoprotein Ibβ gene associated with Bernard-Soulier syndrome
    Kunishima, S
    Tomiyama, Y
    Honda, S
    Fukunishi, M
    Hara, J
    Inoue, C
    Kamiya, T
    Saito, H
    THROMBOSIS AND HAEMOSTASIS, 2000, 84 (01) : 112 - 117
  • [24] Identification of a new mutation in platelet glycoprotein IX (GP IX) in a patient with Bernard Soulier syndrome.
    Rivera, CE
    Lindstrom, KJ
    Weil, MK
    Krizek, DM
    Williams, S
    Saunthararajah, Y
    Rick, ME
    BLOOD, 1998, 92 (10) : 89B - 89B
  • [25] DOUBLE HETEROZYGOSITY FOR MUTATIONS IN THE PLATELET GLYCOPROTEIN-IX GENE IN 3 SIBLINGS WITH BERNARD-SOULIER SYNDROME
    WRIGHT, SD
    MICHAELIDES, K
    JOHNSON, DJD
    WEST, NC
    TUDDENHAM, EGD
    BLOOD, 1993, 81 (09) : 2339 - 2347
  • [26] Mutation of Cys8 (TGT)→arg (CGT) in glycoprotein IX in a patient with Bernard-Soulier syndrome
    Nagel, T
    Kim, HC
    Afshar-Kharghan, V
    Mahley, RW
    López, JA
    THROMBOSIS AND HAEMOSTASIS, 1999, : 690 - 690
  • [27] SUBSTANTIAL EXPRESSION OF GLYCOPROTEIN-IX AND GLYCOPROTEIN-V ON THE PLATELET SURFACE FROM A PATIENT WITH BERNARD-SOULIER SYNDROME
    ARAI, M
    YAMAMOTO, N
    AKAMATSU, N
    SUZUKI, H
    YAMAGUCHI, A
    NISHIDA, Y
    FUKUTAKE, K
    TANOUE, K
    BRITISH JOURNAL OF HAEMATOLOGY, 1994, 87 (01) : 185 - 188
  • [28] A Leu40Pro substitution in the leucine rich motif (LRM) of glycoprotein (GP) IX is responsible for dysfunction of a normally expressed GPIB alpha in Bernard-Soulier syndrome (BSS).
    Noris, P
    Bertolino, G
    Spedini, P
    Mazzini, G
    Arbustini, E
    Balduini, CL
    BLOOD, 1995, 86 (10) : 312 - 312
  • [29] Fetomaternal platelet immunization associated with maternal Bernard-Soulier syndrome
    Uotila, Jukka
    Tammela, Outi
    Maekipernaa, Anne
    AMERICAN JOURNAL OF PERINATOLOGY, 2008, 25 (04) : 219 - 223
  • [30] THE MOLECULAR-GENETIC DEFECT IN A BERNARD-SOULIER KINDRED - A POINT MUTATION IN THE 5TH LEUCINE-RICH REPEAT OF PLATELET GLYCOPROTEIN IB-ALPHA
    LI, CY
    MARTIN, SE
    ROTH, GJ
    BLOOD, 1994, 84 (10) : A474 - A474
12345