Severe haemophilia A in southern France: Detection of three novel mutations and analysis of factor VIII transcripts

被引:0
|
作者
Maugard, C
Tuffery, S
AguilarMartinez, P
Gris, JC
Schved, JF
Demaille, J
Claustres, M
机构
[1] CHU MONTPELLIER, BIOCHIM GENET LAB, F-34060 MONTPELLIER, FRANCE
[2] INST BIOL, CNRS, UPR 9008, F-34060 MONTPELLIER, FRANCE
[3] CHU ST ELOI, HEMATOL LAB, F-34000 MONTPELLIER, FRANCE
[4] CHU G DOUMERGUE, HEMATOL LAB, F-30000 NIMES, FRANCE
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
引用
收藏
页码:PS927 / PS927
页数:1
相关论文
共 50 条
  • [1] Protein truncation test: Detection of severe haemophilia A mutation and analysis of factor VIII transcripts
    Maugard, C
    Tuffery, S
    Aguilar-Martinez, P
    Schved, JF
    Gris, JC
    Demaille, J
    Claustres, M
    HUMAN MUTATION, 1998, 11 (01) : 18 - 22
  • [2] Mutational analysis of factor VIII transcripts in haemophilia A patients
    Waseem, NH
    Bagnall, R
    Green, PM
    Giannelli, F
    THROMBOSIS AND HAEMOSTASIS, 1997, : PS929 - PS929
  • [3] Spectrum of factor VIII mutations in Arab patients with severe haemophilia A
    Abu-Amero, K. K.
    Hellani, A.
    Al-Mahed, M.
    Al-Sheikh, I.
    HAEMOPHILIA, 2008, 14 (03) : 484 - 488
  • [4] Identification of factor VIII gene mutations in patients with severe haemophilia A in Venezuela: identification of seven novel mutations
    Albanez, S.
    Ruiz-Saez, A.
    Boadas, A.
    De Bosch, N.
    Porco, A.
    HAEMOPHILIA, 2011, 17 (05) : E913 - E918
  • [5] Identification of nine novel mutations of factor VIII gene in 15 unrelated patients with severe haemophilia A
    Kapsimali, Z.
    Pergantou, H.
    Petychakis, D.
    Mazarakis, M.
    Xafaki, P.
    Platokouki, H.
    HAEMOPHILIA, 2013, 19 : 22 - 22
  • [6] Profiling of factor VIII mutations in Korean haemophilia A
    Hwang, S. H.
    Kim, M. J.
    Lim, J. A.
    Kim, H. C.
    Kim, H. S.
    HAEMOPHILIA, 2009, 15 (06) : 1311 - 1317
  • [7] Identification of factor VIII gene mutations and carrier detection in Korean haemophilia A patients
    Han, J. -Y.
    Lee, J. -N.
    Lee, S. -Y.
    Kim, I. -J.
    Kim, C. -M
    HAEMOPHILIA, 2007, 13 (03) : 331 - 333
  • [8] The influence of prophylactic factor VIII in severe haemophilia A
    Gissel, M.
    Whelihan, M. F.
    Ferris, L. A.
    Mann, K. G.
    Rivard, G. E.
    Brummel-Ziedins, K. E.
    HAEMOPHILIA, 2012, 18 (02) : 193 - 199
  • [9] Some factor VIII exon 14 frameshift mutations cause moderately severe haemophilia A
    Nakaya, S
    Liu, ML
    Thompson, AR
    BRITISH JOURNAL OF HAEMATOLOGY, 2001, 115 (04) : 977 - 982
  • [10] Thirteen novel mutations in the factor VIII gene in the Nijmegen haemophilia A patient population
    Boekhorst, J
    Verbruggen, B
    Lavergne, JM
    Costa, JM
    Schoormans, SCM
    Brons, PPT
    van Kraaij, MGJ
    Nováková, IRO
    van Heerde, WL
    BRITISH JOURNAL OF HAEMATOLOGY, 2005, 131 (01) : 109 - 117