Profiling of F8 gene mutations in 262 Chinese haemophilia A patients

被引:0
|
作者
Lu, Y. [1 ]
Wang, X. [1 ]
Ding, Q. [1 ]
Dai, J. [1 ]
Wang, H. [2 ]
Xi, X.
机构
[1] Jiao Tong Univ, Coll Med, Ruijin Hosp, Clin Transfus Dept, Chengdu, Peoples R China
[2] Shanghai Inst Hematol, Shanghai, Peoples R China
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:211 / 211
页数:1
相关论文
共 50 条
  • [31] Sporadic haemophilia A pedigree with mosaicism of the F8 gene mutation in the index's maternal grandmother
    Lu, Y.
    Wang, X.
    Ding, Q.
    Dai, J.
    Wang, H.
    Xi, X.
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2011, 9 : 211 - 211
  • [32] Factor VIII gene (F8) mutations in a pediatric population with severe hemophilia A
    Pavlova, Anna
    Oldenburg, Johannes
    Andersen, Eric
    Matytsina, Irina
    HAEMOPHILIA, 2014, 20 : 59 - 59
  • [33] Investigation of underlying reasons of factor VIII deficiency in hemophilia A patients with undetectable mutations in the F8 gene
    El-Maarri, O.
    Klein, C.
    Schroder, J.
    Pavlova, A.
    Junen, J.
    Muller, J.
    Watzka, M.
    Schwaab, R.
    Goodeve, A.
    Negrier, C.
    Thompson, A. R.
    Srivastava, A.
    Oldenburg, J.
    37TH HEMOPHILIA SYMPOSIUM, 2008, : 109 - 113
  • [34] Accurate, simple, and inexpensive assays to diagnose F8 gene inversion mutations in hemophilia A patients and carriers
    Dutta, Debargh
    Gunasekera, Devi
    Ragni, Margaret V.
    Pratt, Kathleen P.
    BLOOD ADVANCES, 2016, 1 (03) : 231 - 239
  • [35] An Accurate, Simple, and Inexpensive Assay to Diagnose F8 Gene Inversion Mutations in Hemophilia a Patients and Carriers
    Dutta, Debargh Kumar
    Roy, Gourgopal
    Gunasekera, Devi
    Ragni, Margaret V.
    Pratt, Kathleen P.
    BLOOD, 2016, 128 (22)
  • [36] Response to desmopressin is strongly dependent on F8 gene mutation type in mild and moderate haemophilia A
    Stoof, Sara C. M.
    Sanders, Yvonne V.
    Petrij, Fred
    Cnossen, Marjon H.
    de Maat, Moniek P. M.
    Leebeek, Frank W. G.
    Kruip, Marieke J. H. A.
    THROMBOSIS AND HAEMOSTASIS, 2013, 109 (03) : 440 - 449
  • [37] Investigation of a complex rearrangement in the F8 gene to provide carrier diagnosis in a family with severe haemophilia A
    Theophilus, B. D. M.
    Pezeshkpoor, B.
    El-Maarri, O.
    Guilliatt, A. M.
    Motwani, J.
    Oldenburg, J.
    Williams, M. D.
    BRITISH JOURNAL OF HAEMATOLOGY, 2014, 165 : 44 - 44
  • [38] Sporadic haemophilia A pedigree with mosaicism of the F8 gene mutation in the index's maternal grandmother
    Lu, Y.
    Ding, Q.
    Dai, J.
    Wang, H.
    Wang, X.
    HAEMOPHILIA, 2012, 18 : 18 - 18
  • [39] Hemizygous F8 p.G201E mutation identified in a Chinese family with haemophilia A
    Wang, Peng
    Yuan, Lamei
    Chen, Han
    Xu, Hongbo
    Yang, Zhijian
    Deng, Sheng
    Deng, Hao
    JOURNAL OF THE CHINESE MEDICAL ASSOCIATION, 2019, 82 (01) : 25 - 29
  • [40] Mutational Profiles of F8 and F9 in a Cohort of Haemophilia A and Haemophilia B Patients in the Multi-ethnic Malaysian Population
    Zahari, Maimiza
    Sulaiman, Siti Aishah
    Othman, Zulhabri
    Ayob, Yasmin
    Abd Karim, Faraizah
    Jamal, Rahman
    MEDITERRANEAN JOURNAL OF HEMATOLOGY AND INFECTIOUS DISEASES, 2018, 10