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
来源：
BRITISH JOURNAL OF HAEMATOLOGY | 2005年 / 129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：
141
引用
下载
收藏
页码：46 / 46
页数：1
相关论文
共 50 条
  • [41] Genetics of type 1 von Willebrand disease
    Goodeve, Anne
    CURRENT OPINION IN HEMATOLOGY, 2007, 14 (05) : 444 - 449
  • [42] Genetics of von Willebrand disease type 1
    Riddel, James P., Jr.
    Aouizerat, Bradley E.
    BIOLOGICAL RESEARCH FOR NURSING, 2006, 8 (02) : 147 - 156
  • [43] Type 1 von willebrand disease in pregnancy
    Pierce-Williams, Rebecca
    Makhamreh, Mona M.
    Blakey-Cheung, Sophia
    Gao, Zimeng
    Al Kouatly, Huda B.
    AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 2021, 224 (02) : S643 - S644
  • [44] 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
  • [45] Mutations localized in the D3 domain of von Willebrand factor are identified in patients classified in type 1 or 2A of von Willebrand disease
    Gaucher, C
    Parquet, A
    Baillod, P
    Hanss, M
    Mazurier, C
    THROMBOSIS AND HAEMOSTASIS, 1997, : O1583 - O1583
  • [46] Response of von Willebrand factor parameters to desmopressin in patients with type 1 and type 2 congenital von Willebrand disease: Diagnostic and therapeutic implications
    Michiels, JJ
    van de Velde, A
    van Vliet, HHDM
    van der Planken, M
    Schroyens, W
    Berneman, Z
    SEMINARS IN THROMBOSIS AND HEMOSTASIS, 2002, 28 (02): : 111 - 131
  • [47] 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
  • [48] Inverse relationship between plasma von Willebrand factor and soluble P selectin in patients with type 1 but not type 2 von Willebrand disease
    Blann, AD
    Nitu-Whalley, IC
    Lee, CA
    Lip, GYH
    AMERICAN JOURNAL OF HEMATOLOGY, 2002, 69 (02) : 135 - 137
  • [49] Pharmacokinetics of von Willebrand factor and factor VIII coagulant activity in patients with von Willebrand disease type 3 and type 2
    Menache, D
    HAEMOPHILIA, 1998, 4 : 44 - 47
  • [50] IDENTIFICATION OF MUTATIONS IN THE VON-WILLEBRAND-FACTOR GENE IN JAPANESE PATIENTS WITH VON-WILLEBRAND DISEASE
    INABA, H
    KAKU, M
    HAGIWARA, T
    FUKUTAKE, K
    HANABUSA, H
    INAGAKI, M
    BLOOD, 1993, 82 (10) : A150 - A150
12345