Study of 7 large deletions of beginning or end of F8 gene in severe hemophilia A patients

被引：0
|
作者：
Chatelain, R. [1 ]
Fretigny, M. [1 ]
Chambost, H. [2 ]
Goudemand, J. [3 ]
Zawadzki, C. [4 ]
Guillet, B. [5 ]
Gruel, Y. [6 ]
Lambert, T. [7 ]
Negrier, C. [3 ]
Vinciguerra, C. [8 ]
机构：
[1] Hosp Civils Lyon, Serv Hematol Biol, Lyon, France
[2] CHU Timone, Serv Hemato Pediat, Marseille, France
[3] CRTH, Lille, France
[4] CHRU, Lab Hematol, Lille, France
[5] CHRU Pontchaillou, Lab Hematol, Rennes, France
[6] Hop Trousseau, Lab Hematol, Tours, France
[7] Hop Bicetre, CRTH, Le Kremlin Bicetre, France
[8] Hosp Civils Lyon, Serv Hematol Biol, Lyon 03, France
来源：
JOURNAL OF THROMBOSIS AND HAEMOSTASIS | 2009年 / 7卷
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：
OC-TU-073
引用
收藏
页码：191 / 191
页数：1
相关论文
共 50 条
  • [1] Description of a large duplication in F8 gene responsible for severe hemophilia A.
    Vinciguerra, Christine
    Goudemand, Jenny
    Zawadzki, Christophe
    Pellecchia, Dorothee
    Negrier, Claude
    BLOOD, 2007, 110 (11) : 348A - 348A
  • [2] Genomic alterations in the F8 gene correlating with severe hemophilia A in Egyptian patients
    Mosaad, Rehab M.
    Amr, Khalda S.
    Rabie, Eman A.
    Mostafa, Naglaa O.
    Habib, Sonia A.
    El-Kamah, Ghada Y.
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2021, 9 (02):
  • [3] qPCR analysis to verify large deletions in the F8 gene
    Fidanci, I.
    Caglayanx, A.
    Meral, A.
    Sayilan, H.
    Timur, C.
    HAEMOPHILIA, 2008, 14 : 68 - 68
  • [4] Enhancing hemophilia A gene therapy by strategic F8 deletions in AAV vectors
    Zhao, Juan-Juan
    Tian, Sai-Ning
    Li, Xiang
    Peng, Zu-Yi
    Li, Guo-Hua
    Zhang, Feng
    Zhao, Mei
    Zhang, Jian-Ping
    Zhang, Xiao-Bing
    BLOOD SCIENCE, 2025, 7 (01):
  • [5] Identification of Novel Mutations in Exon 14 of the F8 Gene in Malaysian Patients with Severe Hemophilia A
    Emmanuel Jairaj Moses
    Sim Pei Ling
    Faisal Muti Al-Hassan
    Faraizah Abdul Karim
    Narazah Mohd Yusoff
    Indian Journal of Clinical Biochemistry, 2012, 27 (2) : 207 - 208
  • [6] A possible mechanism for Inv22-related F8 large deletions in severe hemophilia A patients with high responding factor VIII inhibitors
    Fujita, J.
    Miyawaki, Y.
    Suzuki, A.
    Maki, A.
    Okuyama, E.
    Murata, M.
    Takagi, A.
    Murate, T.
    Suzuki, N.
    Matsushita, T.
    Saito, H.
    Kojima, T.
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2012, 10 (10) : 2099 - 2107
  • [7] Identification of Novel Mutations in Exon 14 of the F8 Gene in Malaysian Patients with Severe Hemophilia A
    Moses, Emmanuel Jairaj
    Ling, Sim Pei
    Al-Hassan, Faisal Muti
    Karim, Faraizah Abdul
    Yusoff, Narazah Mohd
    INDIAN JOURNAL OF CLINICAL BIOCHEMISTRY, 2012, 27 (02) : 207 - 208
  • [8] 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
  • [9] Characterisation of two novel large F8 deletions in patients with severe haemophilia A and factor VIII inhibitors
    Roth, Lukas
    Marschalek, Rolf
    Oldenburg, Johannes
    Oyen, Florian
    Schneppenheim, Reinhard
    THROMBOSIS AND HAEMOSTASIS, 2011, 105 (02) : 279 - 284
  • [10] Unusual intron 1 inversion with concomitant large duplication within the F8 gene in a severe hemophilia A patient
    Badoz, M.
    Pellechia, D.
    Fretigny, M.
    Roussel-Robert, V
    Stieltjes, N.
    Negrier, C.
    Vinciguerra, C.
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2009, 7 : 807 - 807
12345