A novel R1205C candidate type 1 von Willebrand disease mutation in the same codon as type 2 'Vincenza' in two affected siblings of a Scottish family

被引:0
|
作者
Enayat, MS
Chalmers, E
Williams, MD
Hill, FGH
机构
[1] Birmingham Childrens Hosp NHS Trust, Dept Haematol, Mol Haemostasis Lab, Birmingham, W Midlands, England
[2] Royal Hosp Sick Children, Dept Haematol, Glasgow G3 8SJ, Lanark, Scotland
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
160
引用
收藏
页码:50 / 50
页数:1
相关论文
共 50 条
  • [21] Mouse Models of the Common, Recurring Type 1 von Willebrand Disease Mutations Y1584C and R1205H
    Pruss, Cynthia M.
    Golder, Mia
    Bryant, Andrea
    Burnett, Erin
    Sponagle, Kate
    Hegadorn, Carol
    Haberichter, Sandra L.
    Lillicrap, David.
    BLOOD, 2010, 116 (21) : 15 - 15
  • [22] NOVEL VON WILLEBRAND GENETIC MUTATION (C.4097T>G) ASSOCIATED WITH VON WILLEBRAND DISEASE TYPE 2M
    Danaee, A.
    Bevan, D.
    Cutler, J.
    Mitchell, M.
    HAEMATOLOGICA, 2012, 97 : 186 - 186
  • [23] Von Willebrand disease type 2M "Vicenza" in Italian and German patients: Identification of the first candidate mutation (G3864A; R1205H) in 8 families
    Schneppenheim, R
    Federici, AB
    Budde, U
    Castaman, G
    Drewke, E
    Krey, S
    Mannucci, PM
    Riesen, G
    Rodeghiero, F
    Zieger, B
    Zimmermann, R
    THROMBOSIS AND HAEMOSTASIS, 2000, 83 (01) : 136 - 140
  • [24] Identification and characterization of a novel mutation in von Willebrand factor causing type 2B von Willebrand's disease
    Facey, DA
    Favaloro, EJ
    Koutts, J
    Berndt, MC
    Hertzberg, MS
    BRITISH JOURNAL OF HAEMATOLOGY, 1999, 105 (02) : 538 - 541
  • [25] A first Taiwanese Chinese family of type 2B von Willebrand disease with R1306W mutation
    Shen, MC
    Lin, JS
    Lin, DSY
    Hsu, SC
    Lin, B
    THROMBOSIS RESEARCH, 2003, 112 (5-6) : 291 - 295
  • [26] Functional characterisation of a novel splice mutation, c.7887+2T>A, associated with type 1 von Willebrand disease
    Cartwright, A.
    Webster, S. J.
    Jacobi, P. M.
    Hickson, N.
    Budde, U.
    Peake, I. R.
    Goodeve, A. C.
    Haberichter, S. L.
    Hampshire, D. J.
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2015, 13 : 505 - 505
  • [27] An additional unique candidate mutation (G2470A; M7401) in the original families with von Willebrand disease type 2 M vicenza and the G3864A (R1205H) mutation
    Castaman, G
    Missiaglia, E
    Federici, AB
    Schneppenheim, R
    Rodeghiero, F
    THROMBOSIS AND HAEMOSTASIS, 2000, 84 (02) : 350 - 351
  • [28] Changes of von Willebrand factor after orthotopic liver transplantation in type 2M "Vicenza" (R1205H) von Willebrand Disease.
    Federici, AB
    Canciani, MT
    Gavazova, S
    Mazzaferro, V
    Mannucci, PM
    BLOOD, 2001, 98 (11) : 537A - 537A
  • [29] A novel mutation Gly1672->Arg in type 2A and a homozygous mutation in type 2B von Willebrand disease
    Hagiwara, T
    Inaba, H
    Yoshida, S
    Nagaizumi, K
    Arai, M
    Hanabusa, H
    Fukutake, K
    THROMBOSIS AND HAEMOSTASIS, 1996, 76 (02) : 253 - 257
  • [30] 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