Functional characterisation of 13-bp deletion mutation (-1255 del) in the VWF gene promoter causing type 1 von willebrand disease

被引：0
|
作者：
Othman, M. [1 ]
Chirinian, Y. [1 ]
Brown, C. [1 ]
Notely, C. [1 ]
Buckley, S. [2 ]
Waddington, S. N. [3 ]
Baker, A. H. [4 ]
Lillicrap, D. [1 ]
机构：
[1] Queens Univ, Pathol & Mol Med, Kingston, ON, Canada
[2] Imperial Coll, Hematol, London, England
[3] Imperial Coll, Hematol, London, ON, Canada
[4] Univ Glasgow, Cardiovasc Res Ctr, Glasgow, Scotland
来源：
JOURNAL OF THROMBOSIS AND HAEMOSTASIS | 2009年 / 7卷
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：
OC-TU-076
引用
收藏
页码：192 / 192
页数：1
相关论文
共 42 条
  • [1] 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
  • [2] Von Willebrand disease type 2B with a novel mutation in the VWF gene
    Jeraiby, Mohammed Abdullah
    Sophie, Susen
    Caron, Claudine
    Campos, Lydia
    Brigitte, Tardy
    ANNALS OF SAUDI MEDICINE, 2021, 41 (01) : 59 - 61
  • [3] Variation in the VWF Gene in Swedish Patients with Type 1 von Willebrand Disease
    Johansson, Anna M.
    Hallden, Christer
    Sall, Torbjorn
    Lethagen, Stefan
    ANNALS OF HUMAN GENETICS, 2011, 75 : 447 - 455
  • [4] Polymorphism in the promoter region of von Willebrand factor gene and von Willebrand disease type 1
    Simon, D
    Bandinelli, E
    Roisenberg, I
    GENETICS AND MOLECULAR BIOLOGY, 2003, 26 (04) : 397 - 401
  • [5] Functional Characterization of Three VWF-A1 Domain Mutations Causing Type 2 Von Willebrand Disease.
    Othman, Maha
    Chegeni, Rouzbeh
    Vickars, Linda M.
    Favaloro, Emmanuel J.
    Lillicrap, David
    BLOOD, 2009, 114 (22) : 534 - 535
  • [6] A novel 13-bp deletion in Exon 1 of CYP21 gene causing severe congenital adrenal hyperplasia
    Kharrat, M
    Tardy, V
    M'Rad, R
    Maazoul, F
    Morel, Y
    Chaabouni, H
    DIAGNOSTIC MOLECULAR PATHOLOGY, 2005, 14 (04) : 250 - 252
  • [7] Type 1 and type 3 von willebrand disease associated with a novel recurrent deletion mutation
    Sutherland, M. S.
    Cumming, A. M.
    Bowman, M.
    Bolton-Maggs, P. H. B.
    Bowen, D. J.
    Collins, P. W.
    Hay, C. R. W.
    Will, A.
    Keeney, S.
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2009, 7 : 192 - 193
  • [8] A novel recurrent deletion mutation associated with type 1 and type 3 von Willebrand disease
    Sutherland, M. S.
    Cumming, A. M.
    Bolton-Maggs, P. H. B.
    Bowen, D. J.
    Collins, P. W.
    Hay, C. R. M.
    Will, A.
    Keeney, S.
    BRITISH JOURNAL OF HAEMATOLOGY, 2008, 141 : 71 - 72
  • [9] A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1
    Pearce, SHS
    Cheetham, T
    Imrie, H
    Vaidya, B
    Barnes, ND
    Bilous, RW
    Carr, D
    Meeran, K
    Shaw, NJ
    Smith, CS
    Toft, AD
    Williams, G
    Kendall-Taylor, P
    AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (06) : 1675 - 1684
  • [10] A mutation in the D4 domain of von Willebrand factor (VWF) results in a variant of type 1 von Willebrand disease with accelerated in vivo VWF clearance.
    Gavazova, S
    Gill, JC
    Scott, JP
    Hillery, CA
    Friedman, KD
    Wetzel, N
    Jozwiak, M
    Haberichter, SL
    Christopherson, P
    Montgomery, RR
    BLOOD, 2002, 100 (11) : 128A - 128A
12345