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
  • [31] Incidence of factor VIII inhibitors in severe haemophilia:: the importance of patient age
    Lorenzo, JI
    López, A
    Altisent, C
    Aznar, JA
    BRITISH JOURNAL OF HAEMATOLOGY, 2001, 113 (03) : 600 - 603
  • [32] Analysis of large structural changes of the factor VIII gene involving intron 22 in severe haemophilia A
    Bors, A
    Andrikovics, H
    Kalmar, L
    Klein, I
    Varadi, A
    Nemes, L
    Tordai, A
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 : 243 - 244
  • [33] Analysis of Factor VIII polymorphic markers as a means for carrier detection in Brazilian families with haemophilia A
    De Carvalho, F. M.
    Wolfgramm, E. De Vargas
    Paneto, G. G.
    Careta, F. De Paula
    Perrone, A. M. Spagnol
    De Paula, F.
    Louro, I. D.
    HAEMOPHILIA, 2007, 13 (04) : 409 - 412
  • [34] Immunological detection of factor VIII antibodies in congenital and acquired haemophilia A
    Batty, P.
    Moore, G. W.
    Platton, S. J.
    Maloney, J. C.
    Bowles, L.
    Pasi, J.
    Rangarajan, S.
    Hart, D. P.
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2013, 11 : 930 - 930
  • [35] Immune Tolerance Induction in A Patient with Severe Haemophilia A and Factor VIII Inhibitors
    Freiria Alberte, C.
    Legarda, M.
    Cid, A. R.
    Guarin, A. P.
    Querol Fuentes, F.
    Bonanad Boix, S.
    Haya Guaita, S.
    HAEMOPHILIA, 2017, 23 : 47 - 48
  • [36] Measurement of global haemostasis in severe haemophilia A following factor VIII infusion
    Lewis, S. J.
    Stephens, E.
    Florou, G.
    Macartney, N. J.
    Hathaway, L. S.
    Knipping, J.
    Collins, P. W.
    BRITISH JOURNAL OF HAEMATOLOGY, 2007, 138 (06) : 775 - 782
  • [37] A novel mutation (2409delT) in exon 14 of the factor VIII gene causes severe haemophilia A
    Vidal, F
    Farssac, E
    Altisent, C
    Puig, L
    Gallardo, D
    HUMAN HEREDITY, 2000, 50 (04) : 266 - 267
  • [38] Persistent factor VIII inhibitors and orthopaedic complications in children with severe haemophilia A
    Abdel-Messih, I. Y.
    Habashy, D. M. Mohamed
    Moftah, S. G.
    El-Alfy, M.
    HAEMOPHILIA, 2011, 17 (03) : 490 - 493
  • [39] 11 novel mutations in the factor VIII encoding gene lead to severe or moderate hemophilia A
    Uen, C
    Klopp, N
    Oldenburg, J
    Brackmann, HH
    Schramm, W
    Schwaab, R
    Graw, J
    32ND HEMOPHILIA SYMPOSIUM, 2003, : 25 - 31
  • [40] Diagnostic accuracy study of a factor VIII ELISA for detection of factor VIII antibodies in congenital and acquired haemophilia A
    Batty, Paul
    Moore, Gary W.
    Platton, Sean
    Maloney, James C.
    Palmer, Ben
    Bowles, Louise
    Pasi, K. John
    Rangarajan, Savita
    Hart, Daniel P.
    THROMBOSIS AND HAEMOSTASIS, 2015, 114 (04) : 804 - 811