Identification of factor VIII gene mutations and carrier detection in Korean haemophilia A patients

被引：1
|
作者：
Han, J. -Y.
Lee, J. -N.
Lee, S. -Y.
Kim, I. -J.
Kim, C. -M
机构：
[1] Dong A Univ, Coll Med, Dept Lab Med, Pusan 602715, South Korea
[2] Inje Univ, Coll Med, Dept Pediat, Pusan, South Korea
[3] Pusan Natl Univ, Coll Med, Dept Biochem, Pusan, South Korea
来源：
HAEMOPHILIA | 2007年 / 13卷 / 03期
关键词：
D O I：
10.1111/j.1365-2516.2007.01462.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：331 / 333
页数：3
相关论文
共 50 条
  • [31] Identification of seven novel mutations in the factor VIII gene in 18 unrelated Chinese patients with hemophilia A
    Hua Bao-lai
    Yan Zhen-yu
    Liang Yan
    Yan Mei
    Fan Lian-kai
    Li Kui-xing
    Xiao Bai
    Liu Jing-zhong
    Zhao Yong-qiang
    CHINESE MEDICAL JOURNAL, 2010, 123 (03) : 305 - 310
  • [32] Severe haemophilia A in southern France: Detection of three novel mutations and analysis of factor VIII transcripts
    Maugard, C
    Tuffery, S
    AguilarMartinez, P
    Gris, JC
    Schved, JF
    Demaille, J
    Claustres, M
    THROMBOSIS AND HAEMOSTASIS, 1997, : PS927 - PS927
  • [33] Inhibitor development in haemophilia A patients with inversion of the intron 22 of the factor VIII gene
    Tizzano, EF
    Altisent, C
    Domenech, M
    Cornet, M
    Tusell, J
    Baiget, M
    THROMBOSIS AND HAEMOSTASIS, 1996, 76 (01) : 125 - 126
  • [34] Pathophysiology of inhibitors to factor VIII in patients with haemophilia A
    Lacroix-Desmazes, S
    Misra, N
    Bayry, J
    Artaud, C
    Drayton, B
    Kaveri, SV
    Kazatchkine, MD
    HAEMOPHILIA, 2002, 8 (03) : 273 - 279
  • [35] First report of two independent point factor VIII mutations in a family with haemophilia A:: a word of caution for carrier diagnosis
    Tizzano, EF
    Venceslá, A
    Baena, M
    Cornet, M
    Calvo, MT
    Lucía, JF
    Garrido, RP
    Núñez, R
    Baiget, M
    THROMBOSIS AND HAEMOSTASIS, 2005, 94 (03) : 675 - 677
  • [36] 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
  • [37] Molecular genetics of coagulation factor VIII gene and haemophilia A
    Antonarakis, SE
    HAEMOPHILIA, 1998, 4 : 1 - 11
  • [38] Application of intron 9 and intron 25 dinucleotide repeats of the factor VIII gene for carrier diagnosis in haemophilia A
    Vencesla, A.
    Baena, M.
    Taie, L. Fares
    Cornet, M.
    Baiget, M.
    Tizzano, E. F.
    HAEMOPHILIA, 2008, 14 (03) : 489 - 493
  • [39] Factor VIII genotype and inhibitor development in patients with haemophilia A:: highest risk in patients with splice site mutations
    Boekhorst, J.
    Lari, G. R.
    D'Oiron, R.
    Costa, J. M.
    Novakova, I. R. O.
    Ala, F. A.
    Lavergne, J. M.
    Van Heerde, W. L.
    HAEMOPHILIA, 2008, 14 (04) : 729 - 735
  • [40] Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions
    Jayandharan, G
    Shaji, RV
    Baidya, S
    Nair, SC
    Chandy, M
    Srivastava, A
    HAEMOPHILIA, 2005, 11 (05) : 481 - 491
12345