Seven novel candidate mutations in exon 27 and 28 of von Willebrand gene in patients with type 1, type 2 M and unclassified von Willebrand disease

被引:0
|
作者
Enayat, MS
Guilliatt, AM
Surdhar, GK
Jones, N
Wilde, JT
Chalmers, EA
Tait, RC
Strevens, MJ
Williams, MD
Hill, FGH
机构
[1] Birmingham Childrens Hosp NHS Trust, Dept Haematol, Birmingham, W Midlands, England
[2] Queen Elizabeth Hosp, Dept Haematol, Birmingham, W Midlands, England
[3] Royal Hosp Sick Children, Dept Haematol, Glasgow G3 8SJ, Lanark, Scotland
[4] Glasgow Royal Infirm, Haemophilia & Thrombosis Ctr, Glasgow G4 0SF, Lanark, Scotland
[5] Walsgrave Gen Hosp, Dept Clin Haematol, Coventry, W Midlands, England
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
141
引用
下载
收藏
页码:46 / 46
页数:1
相关论文
共 50 条
  • [1] Novel candidate mutations for type 1 and 2 M von Willebrand disease in patients from the West of Scotland
    Enayat, M. S.
    Guilliatt, A. M.
    Alvi, A.
    Tait, R. C.
    Willams, M. D.
    BRITISH JOURNAL OF HAEMATOLOGY, 2008, 141 : 80 - 80
  • [2] Gastrointestinal angiodysplasia in a patient with type 2 von Willebrand's disease and analysis of exon 28 of the von Willebrand factor gene
    Satoh, Y
    Kita, H
    Kihira, K
    Mutoh, H
    Osawa, H
    Satoh, K
    Ido, K
    Sakata, Y
    Sugano, K
    AMERICAN JOURNAL OF GASTROENTEROLOGY, 2004, 99 (12): : 2495 - 2498
  • [3] Multiple von Willebrand factor mutations in patients with recessive type 1 von Willebrand disease
    Casonato, Alessandra
    Gallinaro, Lisa
    Pontara, Elena
    Bernardo, Letizia
    Sartorello, Francesca
    Daidone, Viviana
    Pagnan, Antonio
    THROMBOSIS RESEARCH, 2007, 120 (03) : 451 - 453
  • [4] New mutations in exon 28 of the von Willebrand factor gene detected in patients with different types of von Willebrand's disease
    Casaña, P
    Martínez, F
    Haya, S
    Tavares, A
    Aznar, JA
    HAEMATOLOGICA, 2001, 86 (04) : 414 - 419
  • [5] Expression of two type 2N von Willebrand disease mutations identified in exon 18 of von Willebrand factor gene
    Hilbert, L
    Jorieux, S
    Fontenay-Roupie, M
    Guicheteau, M
    Fressinaud, E
    Meyer, D
    Mazurier, C
    BRITISH JOURNAL OF HAEMATOLOGY, 2004, 127 (02) : 184 - 189
  • [6] 3 DISTINCT CANDIDATE POINT MUTATIONS OF THE VON WILLEBRAND FACTOR GENE IN 4 PATIENTS WITH TYPE-IIA VON WILLEBRAND DISEASE
    SUGIURA, I
    MATSUSHITA, T
    TANIMOTO, M
    TAKAHASHI, I
    YAMAZAKI, T
    YAMAMOTO, K
    TAKAMATSU, J
    KAMIYA, T
    SAITO, H
    THROMBOSIS AND HAEMOSTASIS, 1992, 67 (06) : 612 - 617
  • [7] The effectiveness of screening of exon 28 in patients with Type 3 Von Willebrand disease
    Ravanbod, S.
    Enayat, S.
    Rassoulzadegan, M.
    Nasirnejad, F.
    Lari, Rastegar G.
    Chupan, A.
    Baghaipour, M. R.
    Jazebi, M.
    Ala, F.
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2013, 11 : 942 - 943
  • [8] Splice site mutations of the von Willebrand factor gene cause inframe exon skipping as a novel molecular mechanism in von Willebrand disease type 2A.
    Schneppenheim, R
    Drewke, E
    Obser, T
    Oyen, F
    Budde, U
    BLOOD, 2002, 100 (11) : 128A - 128A
  • [9] Novel mutation in the von Willebrand Factor gene of type 2 von Willebrand Disease seen in Taiwan
    Shen, M. C.
    Lin, B. D.
    Lin, H. Y.
    Tsai, W.
    Lin, J. S.
    Kuo, S. F.
    Hong, M. H.
    Wang, Y. C.
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2009, 7 : 1146 - 1146
  • [10] A survey of previously diagnosed type 1 von Willebrand disease identifies a subgroup of patients with type 2M von Willebrand disease
    Nitu-Whalley, IC
    Lee, CA
    Owens, D
    Riddell, A
    Pasi, KJ
    Jenkins, PV
    THROMBOSIS AND HAEMOSTASIS, 1999, : 510 - 510