Identification and functional characterization of a novel 27bp deletion in the macroglycopeptide-coding region of the GPIbα gene resulting in platelet-type Von Willebrand disease.

被引：0
|
作者：
Othman, M
Elbatarny, HS
Notley, C
Lavender, LF
White, H
Byrne, CD
O'Shaughnessy, DF
Lillicrap, DP
机构：
[1] Queens Univ, Kingston, ON, Canada
[2] Univ Southampton, Southampton SO9 5NH, Hants, England
来源：
BLOOD | 2004年 / 104卷 / 11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：
1023
引用
收藏
页码：292A / 293A
页数：2
相关论文
共 12 条
  • [1] Identification and functional characterization of a novel 27-bp deletion in the macroglycopeptide-coding region of the GPIBA gene resulting in platelet-type von Willebrand disease
    Othman, M
    Notley, C
    Lavender, FL
    White, H
    Byrne, CD
    Lillicrap, D
    O'Shaughnessy, DF
    BLOOD, 2005, 105 (11) : 4330 - 4336
  • [2] A novel 27 bp deletion in the macroglycopeptide coding region of the GP Ib alpha gene in a British family with pseudo-Von Willebrand disease.
    Othman, MA
    Byrne, CD
    O'Shaughnessy, DF
    BLOOD, 2001, 98 (11) : 41A - 41A
  • [3] PLATELET-TYPE VON WILLEBRAND DISEASE PLATELET AGGREGATING FACTOR - A NOVEL FUNCTIONAL ASSAY OF VON WILLEBRAND FACTOR
    TAKAHASHI, H
    TATEWAKI, W
    HANANO, M
    SHIBATA, A
    THROMBOSIS RESEARCH, 1987, 48 (04) : 475 - 485
  • [4] Identification of a novel point mutation in platelet glycoprotein Ibα, Gly to Ser at residue 233, in a Japanese family with platelet-type von Willebrand disease.
    Matsubara, Y
    Murata, M
    Sugita, K
    Ikeda, Y
    BLOOD, 2002, 100 (11) : 14A - 15A
  • [5] Phenotype changes resulting in high-affinity binding of vWF to recombinant GPIb: Analysis of platelet-type von Willebrand disease mutations.
    Chong, BH
    Tait, SS
    Cranmer, SL
    Dawes, IW
    Jackson, SP
    BLOOD, 2000, 96 (11) : 624A - +
  • [6] Functional characterization of a 13-bp deletion (c.-1522_-1510del13) in the promoter of the von Willebrand factor gene in type 1 von Willebrand disease
    Othman, Maha
    Chirinian, Yvette
    Brown, Christine
    Notley, Colleen
    Hickson, Nicholas
    Hampshire, Daniel
    Buckley, Suzanne
    Waddington, Simon
    Parker, Alan L.
    Baker, Andrew
    James, Paula
    Lillicrap, David
    BLOOD, 2010, 116 (18) : 3645 - 3652
  • [7] Identification of p.W246L As a Novel Mutation in the GP1BA Gene Responsible for Platelet-Type von Willebrand Disease
    Woods, Adriana I.
    Sanchez-Luceros, Analia
    Bermejo, Emilse
    Paiva, Juvenal
    Alberto, Maria F.
    Grosso, Silvia H.
    Kempfer, Ana C.
    Lazzari, Maria A.
    SEMINARS IN THROMBOSIS AND HEMOSTASIS, 2014, 40 (02): : 151 - 160
  • [8] Identification of a novel point mutation in platelet glycoprotein Ibα Gly to Ser at residue 233, in a Japanese family with platelet-type von Willebrand disease
    Matsubara, Y
    Murata, M
    Sugita, K
    Ikeda, Y
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2003, 1 (10) : 2198 - 2205
  • [9] A novel D235Y mutation in the GP1BA gene enhances platelet interaction with von Willebrand factor in an Iranian family with platelet-type von Willebrand disease
    Enayat, Said
    Ravanbod, Shirin
    Rassoulzadegan, Maryam
    Jazebi, Mohammad
    Tarighat, Shirin
    Ala, Fereydoun
    Emsley, Jonas
    Othman, Maha
    THROMBOSIS AND HAEMOSTASIS, 2012, 108 (05) : 946 - 954
  • [10] Expression and functional characterization of an abnormal platelet membrane glycoprotein Ib alpha (Met(239)->Val) reported in patients with platelet-type von Willebrand disease
    Moriki, T
    Murata, M
    Kitaguchi, T
    Anbo, H
    Handa, M
    Watanabe, K
    Takahashi, H
    Ikeda, Y
    BLOOD, 1997, 90 (02) : 698 - 705
12