VARIANT BERNARD-SOULIER-SYNDROME-ASSOCIATED WITH A HOMOZYGOUS MUTATION IN THE LEUCINE-RICH DOMAIN OF GLYCOPROTEIN-IX

被引:0
|
作者
CLEMETSON, JM
KYRLE, PA
BRENNER, B
CLEMETSON, KJ
机构
[1] UNIV BERN,THEODOR KOCHER INST,CH-3012 BERN,SWITZERLAND
[2] UNIV VIENNA,INNERE MED KLIN 1,KLIN ABT HAMATOL,VIENNA,AUSTRIA
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:1124 / 1131
页数:8
相关论文
共 50 条
  • [1] A HOMOZYGOUS POINT MUTATION IN A LEUCINE-RICH MOTIF OF PLATELET GLYCOPROTEIN-IX ASSOCIATED WITH BERNARD-SOULIER SYNDROME (BSS)
    NORIS, P
    SIMSEK, S
    STIBBE, J
    VONDEMBORNE, AEGK
    [J]. BLOOD, 1994, 84 (10) : A320 - A320
  • [2] 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
    [J]. BRITISH JOURNAL OF HAEMATOLOGY, 1997, 99 (04) : 794 - 800
  • [3] 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
    [J]. BLOOD, 1994, 84 (10) : A472 - A472
  • [4] Novel point mutation in the leucine rich motif of platelet glycoprotein IX associated with Bernard-Soulier syndrome
    Suzuki, K
    Hayashi, T
    Yahagi, A
    Akiba, J
    Tajima, K
    Satoh, S
    Sasaki, H
    [J]. THROMBOSIS AND HAEMOSTASIS, 1997, : PS279 - PS279
  • [5] BIOSYNTHETIC BASIS OF BERNARD-SOULIER SYNDROME-ASSOCIATED WITH MUTATIONS OF PLATELET GLYCOPROTEIN-IX
    SAETUNG, G
    LOPEZ, JA
    [J]. CIRCULATION, 1994, 90 (04) : 346 - 346
  • [6] POINT MUTATION IN A LEUCINE-RICH REPEAT OF PLATELET GLYCOPROTEIN IB-ALPHA RESULTING IN THE BERNARD-SOULIER SYNDROME
    WARE, J
    RUSSELL, SR
    MARCHESE, P
    MURATA, M
    MAZZUCATO, M
    DEMARCO, L
    RUGGERI, ZM
    [J]. JOURNAL OF CLINICAL INVESTIGATION, 1993, 92 (03): : 1213 - 1220
  • [7] 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
    [J]. BRITISH JOURNAL OF HAEMATOLOGY, 1997, 97 (02) : 312 - 320
  • [8] A novel mutation in the transmembrane region of glycoprotein IX associated with Bernard-Soulier syndrome
    Wang, ZY
    Zhao, XJ
    Duan, WM
    Fu, JX
    Lu, MG
    Wang, GM
    Bai, X
    Ruan, CG
    [J]. THROMBOSIS AND HAEMOSTASIS, 2004, 92 (03) : 606 - 613
  • [9] 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
    [J]. BLOOD, 1993, 81 (09) : 2339 - 2347
  • [10] 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
    [J]. BRITISH JOURNAL OF HAEMATOLOGY, 1994, 87 (01) : 185 - 188