Functional characterisation of a novel splice mutation, c.7887+2T>A, associated with type 1 von Willebrand disease

被引：0
|
作者：
Cartwright, A. [1 ]
Webster, S. J. [1 ]
Jacobi, P. M. [2 ]
Hickson, N. [1 ]
Budde, U. [3 ]
Peake, I. R. [1 ]
Goodeve, A. C. [1 ]
Haberichter, S. L. [2 ]
Hampshire, D. J. [1 ]
机构：
[1] Univ Sheffield, Dept Cardiovasc Sci, Sheffield, S Yorkshire, England
[2] BloodCtr Wisconsin, Blood Res Inst, Milwaukee, WI USA
[3] Medilys Hamburg, Hemostaseol Dept, Hamburg, Germany
来源：
JOURNAL OF THROMBOSIS AND HAEMOSTASIS | 2015年 / 13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：
PO667-MON
引用
收藏
页码：505 / 505
页数：1
相关论文
共 50 条
  • [21] Association of the 3467C>T mutation (T1156M) in the von Willebrand's factor gene with dominant type 1 von Willebrand's disease
    P. Casaña
    F. Martínez
    S. Haya
    C. Espinós
    J. Aznar
    Annals of Hematology, 2001, 80 : 381 - 383
  • [22] The Y/C1584 mutation of von Willebrand factor in type 2M von willebrand disease: frequency and clearance of von Willebrand factor
    Millar, CM
    Riddel, AF
    Griffioe, A
    Jenkin, PV
    Brown, SA
    BRITISH JOURNAL OF HAEMATOLOGY, 2005, 130 (03) : 462 - 463
  • [23] Characterisation of mutations and molecular studies of type 2 von Willebrand disease
    Ahmad, Firdos
    Jan, Rifat
    Kannan, Meganathan
    Obser, Tobias
    Hassan, Md Imtaiyaz
    Oyen, Florian
    Budde, Ulrich
    Saxena, Renu
    Schneppenheim, Reinhard
    THROMBOSIS AND HAEMOSTASIS, 2013, 109 (01) : 39 - 46
  • [24] Molecular characterisation and discrimination of patients with Type 2 Von Willebrand disease
    Jenkins, V. P.
    Byrne, M. B.
    Keenan, C.
    Holden, F.
    Nolan, B.
    O'Connell, N.
    O'Donnell, J. S.
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2013, 11 : 677 - 678
  • [25] VON WILLEBRAND DISEASE TYPE 2A DUE TO A RARE VON WILLEBRAND FACTOR MISSENSE MUTATION
    Van Helmond, Jennifer
    Chopra, Aarushi
    Hernandez, Jessa
    Mysore, Sukrita
    Ahmed, Rafat
    PEDIATRIC BLOOD & CANCER, 2020, 67 : S73 - S73
  • [26] A novel von Willebrand factor mutation (11372S) associated with type 2B-like von Willebrand disease: An elusive phenotype and a difficult diagnosis
    Casonato, Alessandra
    Sartorello, Francesca
    Pontara, Elena
    Gallinaro, Lisa
    Bertomoro, Antonella
    Cattini, Maria Grazia
    Daidone, Viviana
    Szukowska, Maryta
    Pagnan, Antonio
    THROMBOSIS AND HAEMOSTASIS, 2007, 98 (06) : 1182 - 1187
  • [27] Functional characterisation of 13-bp deletion mutation (-1255 del) in the VWF gene promoter causing type 1 von willebrand disease
    Othman, M.
    Chirinian, Y.
    Brown, C.
    Notely, C.
    Buckley, S.
    Waddington, S. N.
    Baker, A. H.
    Lillicrap, D.
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2009, 7 : 192 - 192
  • [28] A novel platelet-type von Willebrand disease mutation (GP1BA p.Met255Ile) associated with type 2B "Malmo/New York" von Willebrand disease
    Lavenu-Bombled, Cecile
    Guitton, Corinne
    Dupuis, Arnaud
    Baas, Marie-Jeanne
    Desconclois, Celine
    Dreyfus, Marie
    Li, Renhao
    Caron, Claudine
    Gachet, Christian
    Fressinaud, Edith
    Lanza, Francois
    THROMBOSIS AND HAEMOSTASIS, 2016, 116 (06) : 1070 - 1078
  • [29] Novel G377S (c.1246G>T) mutation associated with Gaucher disease type 1
    Zhou, Yaolin
    Kraemer, Ryan R.
    Peker, Deniz
    Wakefield, Dara N.
    Bakula, Diego A. de Idiaquez
    AMERICAN JOURNAL OF HEMATOLOGY, 2013, 88 (10) : 922 - 923
  • [30] De novo mutation in von Willebrand disease type 2A
    Legdeur, M.
    Eckmann, C.
    Plomp, A.
    Peters, M.
    HAEMOPHILIA, 2012, 18 : 197 - 197
12345