Congenital factor XIII deficiency in Pakistan: characterization of seven families and identification of four novel mutations

被引:0
|
作者
Borhany, M. [1 ]
Handrkova, H. [2 ,3 ]
Cairo, A. [4 ,5 ]
Schroeder, V. [2 ,3 ]
Fatima, N. [1 ]
Shamsi, T. [1 ]
Peyvandi, F. [4 ,5 ]
Kohler, H. P. [2 ,3 ]
机构
[1] Natl Inst Blood Dis & Bone Marrow Transplantat, Karachi, Pakistan
[2] Univ Hosp Bern, Haemostasis Res Lab, Univ Clin Haematol, CH-3010 Bern, Switzerland
[3] Univ Bern, Bern, Switzerland
[4] Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, UOS Dipartimentale Diag & Terapia Coagulopatie, A Bianchi Bonomi Hemophilia & Thrombosis Ctr, Milan, Italy
[5] Luigi Villa Fdn, Milan, Italy
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:45 / 45
页数:1
相关论文
共 50 条
  • [31] Identification of two novel mutations in three children with congenital factor VII deficiency
    Liang, Kairong
    Nikuze, Lauriane
    Zhang, Fuyong
    Lu, Zhengjing
    Wei, Manlv
    Wei, Hongying
    BLOOD COAGULATION & FIBRINOLYSIS, 2021, 32 (05) : 340 - 343
  • [32] SUBUNITS A AND S INHERITANCE IN 4 FAMILIES WITH CONGENITAL FACTOR-XIII DEFICIENCY
    BARBUI, T
    RODEGHIERO, F
    DINI, E
    MARIANI, G
    PAPA, ML
    DEBIASI, R
    CORDEROMURILLO, R
    MONTEROUMANA, C
    BRITISH JOURNAL OF HAEMATOLOGY, 1978, 38 (02) : 267 - 271
  • [33] Factor XIII Congenital Deficiency Factor XIII, Acquired Deficiency, Factor XIII A-Subunit, and Factor XIII B-Subunit
    Tahlan, Anita
    Ahluwalia, Jasmina
    ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE, 2014, 138 (02) : 278 - 281
  • [34] CONGENITAL FACTOR-XIII DEFICIENCY
    NAKAMURA, K
    ACTA HAEMATOLOGICA JAPONICA, 1977, 40 (06): : 969 - 977
  • [35] Congenital deficiency of factor XIII caused by two missense mutations in a Dutch family
    Onland, W
    Böing, AN
    Meijer, AB
    Schaap, MCL
    Nieuwland, R
    Haasnoot, K
    Sturk, A
    Peters, M
    HAEMOPHILIA, 2005, 11 (05) : 539 - 547
  • [36] Molecular modeling predicts structural changes in the A subunit of factor XIII caused by two novel mutations identified in a neonate with severe congenital factor XIII deficiency
    Souri, Masayoshi
    Yee, Vivien C.
    Fujii, Noriko
    Ichinose, Akitada
    THROMBOSIS RESEARCH, 2012, 130 (03) : 506 - 510
  • [37] Novel PLKR mutations in four families with pyruvate kinase deficiency
    Qin, Li
    Nie, Yanbo
    Chen, Long
    Zhang, Donglei
    Lin, Yani
    Ru, Kun
    INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, 2020, 42 (02) : E84 - E87
  • [38] Mocular basis of factor XI deficiency in fifteen families from Chinese: four novel mutations
    Dong, I
    Wang, X.
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2009, 7 : 851 - 852
  • [39] Factor XIII mutation spectrum in Iranian patients with hereditary factor XIII deficiency: Detection of 3 novel mutations
    Mirakhorli, Mojgan
    Farahbakhsh, Faegheh Behboudi
    Baghaipour, Mohammad Reza
    Mahmoudi, Touraj
    Jazebi, Mohammad
    Tabatabaei, Seyed Mohammadreza
    Aala, Fereydoun
    INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, 2019, 41 (03) : E61 - E65
  • [40] CHARACTERIZATION OF 15 PATIENTS WITH FACTOR XI DEFICIENCY AND IDENTIFICATION OF 3 NOVEL MUTATIONS
    Stepanian, Alain
    Peynaud-Debayle, Edith
    Luong, Florent
    Cherel, Ghislaine
    Keita, Hawa
    de Prost, Dominique
    Christophe, Olivier
    INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, 2012, 34 : 169 - 170