Two de novo factor VIII gene mutations in the family of an isolated severe haemophilia A patient

被引：1
|
作者：
Kapsimali, Z. [1 ]
Pavlova, A. [2 ]
Pergantou, H. [1 ]
Adamtziki, E. [1 ]
Oldenburg, J. [2 ]
Platokouki, H. [1 ]
机构：
[1] Aghia Sophia Childrens Hosp, Haemostasis Unit, Haemophilia Ctr, Athens, Greece
[2] Univ Bonn, Dept Expt Haematol & Transfus Med, Bonn, Germany
来源：
HAEMOPHILIA | 2012年 / 18卷 / 01期
关键词：
INVERSION; MOSAICISM;
D O I：
10.1111/j.1365-2516.2011.02609.x
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：E3 / E4
页数：2
相关论文
共 50 条
  • [41] FACTOR VIII IN A FEMALE PATIENT WITH HAEMOPHILIA A DURING PREGNANCY
    MINGERS, AM
    GOLTNER, E
    ARCHIV FUR GYNAKOLOGIE, 1971, 210 (04): : 386 - &
  • [42] A mild form of haemophilia A is associated with two factor VIII missense mutations in German Fleckvieh cattle
    Reinartz, Sina
    Weiss, Christine
    Mischke, Reinhard
    Distl, Ottmar
    ANIMAL GENETICS, 2018, 49 (04) : 350 - 351
  • [43] IgE-mediated anaphylactic reaction to purified and recombinant factor VIII in a patient with severe haemophilia A
    Kadar, J. G.
    Schuster, J.
    Hunzelmann, N.
    HAEMOPHILIA, 2007, 13 (01) : 104 - 105
  • [44] Undetected factor VIII in a patient with type 3 von Willebrands disease mistaken as severe haemophilia A
    Mullah-Ali, A. M.
    Chan, A. K.
    Lillicrap, D.
    Decker, K.
    Seroski, W.
    Moffat, K.
    Walker, I.
    Pai, M. K.
    HAEMOPHILIA, 2009, 15 (06) : 1258 - 1261
  • [45] Successful liver transplantation in a patient with severe haemophilia A and a high-titre factor VIII inhibitor
    Ashrani, AA
    Reding, MT
    Shet, A
    Osip, J
    Humar, A
    Lake, JR
    Key, NS
    HAEMOPHILIA, 2004, 10 (06) : 735 - 737
  • [46] Novel, de novo dysferlin gene mutations in a patient with Miyoshi myopathy
    Hu, Yi-Ying
    Lian, Ya-Jun
    Xu, Hong-Liang
    Zheng, Ya-Ke
    Li, Chen-Fei
    Zhang, Ji-Wei
    Yan, Shu-Ping
    NEUROSCIENCE LETTERS, 2018, 664 : 107 - 109
  • [47] Factor VIII gene inversions in haemophilia A patients of Slovakia
    Poláková, H
    Kádasi, L
    Filová, A
    HUMAN HEREDITY, 1998, 48 (01) : 34 - 37
  • [48] Optimised Factor VIII Vectors for Gene Therapy of Haemophilia A
    Ward, Natalie J.
    Buckley, Suzanne M. K.
    Rahim, Ahad A.
    McVey, John H.
    Waddington, Simon N.
    MOLECULAR THERAPY, 2012, 20 : S192 - S192
  • [49] Molecular genetics of coagulation factor VIII gene and haemophilia A
    Antonarakis, SE
    HAEMOPHILIA, 1998, 4 : 1 - 11
  • [50] 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
12345