A newly detected variant in the MYBPC3 gene in a patient with hypertrophic cardiomyopathy

被引:0
|
作者
Josifovska, S. [1 ]
Vazharova, R. [2 ,3 ]
Balabanski, L. [2 ]
Malinov, M. [2 ]
Panov, S. [1 ]
Ganev, M. [4 ]
Toncheva, D. [4 ]
机构
[1] SS Cyril & Methodius Univ, Fac Nat Sci & Math, Skopje, North Macedonia
[2] GARH Malinov, Genome Ctr, Sofia, Bulgaria
[3] Sofia Univ St Kliment Ohridski, Dept Biol Med Genet & Microbiol, Fac Med, Sofia, Bulgaria
[4] Med Univ Sofia, Dept Med Genet, Sofia, Bulgaria
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
E-P05.23
引用
下载
收藏
页码:850 / 850
页数:1
相关论文
共 50 条
  • [1] Identification of a Novel MYBPC3 Gene Variant in a Patient with Hypertrophic Cardiomyopathy
    Brion, Maria
    Allegue, Catarina
    Gil, Rocio
    Blanco-Verea, Alejandro
    Carracedo, Angel
    Pagannone, Erika
    Evangelista, Anna
    Di Castro, Sara
    Marchitti, Simona
    Stanzione, Rosita
    Volpe, Massimo
    Rubattu, Speranza
    ANNALS OF CLINICAL AND LABORATORY SCIENCE, 2010, 40 (03): : 285 - 289
  • [2] Apical Hypertrophic Cardiomyopathy with a rare MYBPC3 gene mutation variant
    Ahmad, T. A.
    Bhattacharya, P.
    Al-bataineh, M.
    HEART DISEASE: PATHOPHYSIOLOGY, EVALUATION AND MANAGEMENT, 2012, : 9 - 12
  • [3] HYPERTROPHIC CARDIOMYOPATHY AND MYBPC3 VARIANT - A CLINICAL CASE
    Bianco, M.
    Nangeroni, G.
    Biole, C.
    Garello, L.
    Giachino, D.
    Chinaglia, A.
    EUROPEAN HEART JOURNAL SUPPLEMENTS, 2024, 26
  • [4] Novel pathogenic variant of MYBPC3 responsible for hypertrophic cardiomyopathy
    Yang, Xiaofei
    Li, Zhenghao
    Wang, Qingfa
    Zhang, Yongfa
    Zhao, Cuifen
    CARDIOLOGY IN THE YOUNG, 2022, 32 (04) : 539 - 544
  • [5] An Update on MYBPC3 Gene Mutation in Hypertrophic Cardiomyopathy
    Tudurachi, Bogdan-Sorin
    Zavoi, Alexandra
    Leonte, Andreea
    Tapoi, Laura
    Ureche, Carina
    Birgoan, Silviu Gabriel
    Chiuariu, Traian
    Anghel, Larisa
    Radu, Rodica
    Sascau, Radu Andy
    Statescu, Cristian
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2023, 24 (13)
  • [6] MYBPC3 gene variations in hypertrophic cardiomyopathy patients in India
    Tanjore, Reena R.
    Rangaraju, Advithi
    Kerkar, P. G.
    Calambur, Narsimhan
    Nallari, Pratibha
    CANADIAN JOURNAL OF CARDIOLOGY, 2008, 24 (02) : 127 - 130
  • [7] Haploinsufficiency of MYBPC3 in the Development of Hypertrophic Cardiomyopathy
    Barefield, David
    Kumar, Mohit
    Gorham, Joshua
    Seidman, Jonathan
    Seidman, Christine
    de Tombe, Pieter
    Sadayappan, Sakthivel
    CIRCULATION, 2014, 130
  • [8] Familial Hypertrophic Cardiomyopathy in the Presence of a MYBPC3 Pathogenic Variant Reveals a Possible Modifier Role for a MYBPC3 Variant of Uncertain Clinical Significance
    Spoonamore, K. G.
    Freeze, S.
    Lynnes, C.
    Chakraborty, S.
    Celestino-Soper, P. B.
    Bai, S.
    Ware, S. M.
    Chen, P.
    Parent, J. J.
    Vatta, M.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2016, 18 (06): : 945 - 945
  • [9] Prevalence of MYBPC3 Gene Mutations in Russian Patients with Hypertrophic Cardiomyopathy
    Klass, A. L.
    Krylova, N. S.
    Lysenko, A. V.
    Vlasov, I. N.
    Maslova, M. Yu.
    Salagaev, G. I.
    Kovalevskaya, E. A.
    Poteshkina, N. G.
    Shadrina, M. I.
    Slominsky, P. A.
    Filatova, E. V.
    MOLECULAR GENETICS MICROBIOLOGY AND VIROLOGY, 2023, 38 (01) : 16 - 20
  • [10] Prevalence of MYBPC3 Gene Mutations in Russian Patients with Hypertrophic Cardiomyopathy
    A. L. Klass
    N. S. Krylova
    A. V. Lysenko
    I. N. Vlasov
    M. Yu. Maslova
    G. I. Salagaev
    E. A. Kovalevskaya
    N. G. Poteshkina
    M. I. Shadrina
    P. A. Slominsky
    E. V. Filatova
    Molecular Genetics, Microbiology and Virology, 2023, 38 : 16 - 20