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
  • [1] Identification of factor VIII gene mutations and carrier detection in Korean hemophilia A patients
    Han, J.
    Lee, J.
    Lee, S.
    Kim, I.
    Kim, C.
    CLINICAL CHEMISTRY, 2006, 52 (06) : A53 - A53
  • [2] 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
  • [3] 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
  • [4] Spectrum of mutations in Albanian patients with haemophilia A: identification of ten novel mutations in the factor VIII gene
    Castaman, G.
    Giacomelli, S. H.
    Ghiotto, R.
    Boseggia, C.
    Pojani, K.
    Bulo, A.
    Madeo, D.
    Rodeghiero, F.
    HAEMOPHILIA, 2007, 13 (03) : 311 - 316
  • [5] Identification of ten novel mutations in factor VIII gene: A study of a cohort of 52 haemophilia A patients
    Santacroce, Rosa
    Leccese, Angelica
    Trunzo, Roberta
    Lassandro, Giuseppe
    Giordano, Paola
    Ettorre, Cosimo
    Antoncecchi, Stefano
    Cantori, Isabella
    Dragani, Alfredo
    Belvini, Donata
    Salviato, Roberta
    Margaglione, Maurizio
    THROMBOSIS RESEARCH, 2015, 135 (05) : 1031 - 1034
  • [6] 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
  • [7] Factor VIII gene inversions and polymorphisms in Brazilian patients with haemophilia A: carrier detection and prenatal diagnosis
    Soares, RPS
    Chamone, DAF
    Bydlowski, SP
    HAEMOPHILIA, 2001, 7 (03) : 299 - 305
  • [8] Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A
    Theophilus, BDM
    Enayat, MS
    Williams, MD
    Hill, FGH
    HAEMOPHILIA, 2001, 7 (04) : 381 - 391
  • [9] Investigation of underlying reasons of factor VIII deficiency in haemophilia A patients with undetectable mutations in the factor VIII gene
    El-Maarri, O.
    Goodeve, A.
    Negrier, C.
    Thompson, A.
    Strivastava, A.
    Oldenburg, J.
    HAEMOPHILIA, 2008, 14 : 67 - 67
  • [10] Investigation of underlying reasons of factor VIII deficiency in haemophilia a patients with undetectable mutations in the factor VIII gene.
    El-Maarri, Osman
    Schroeder, Joerg
    Klein, Claudia
    Schwaab, Rainer
    Goodeve, Anne
    Negrier, Claude
    Thompson, Arthur
    Srivastava, Alok
    Oldenburg, Johannes
    BLOOD, 2006, 108 (11) : 310A - 310A
12345