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Browsing Abstracts by Subject "mutations"

Browsing Abstracts by Subject "mutations"

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  • Molecular Genetic Approaches in Diagnosis of Duschenne/ Becker Muscular Dystrophy 
    Bayanova, M.; Uahit, R.; Tolegen, N.; Nazarova, L.; Abilkhadirova, A.; Khamzina, A.; Nauryzbaeva, A.; Jaxybayeva, A. (International conference "MODERN PERSPECTIVES FOR BIOMEDICAL SCIENCES: FROM BENCH TO BEDSIDE”; National Laboratory Astana, 2020)
    Introduction: Duchenne/Becker muscular dystrophy (DMD/BMD) is inherited X-linked disease with a frequency of 1: 3,500 newborn males. Deletions and duplications in the DMD gene are errors of reading frameshift and premature ...
  • POTASSIUM CHANNEL GENES KCNQ1, KCNE1/2, KCNH2 (HERG) MUTATIONS IN PATIENTS WITH ATRIAL FIBRILLATION IN KAZAKHSTAN 
    Abilova, Zhannur; Rakhimova, Saule; Akhmetova, Ainur; Zhalbinova, Madina; Nuralinov, Omirbek; Rashbayeva, Gulzhaina; Akilzhanova, Gulbanu; Abdrakhmanov, Ayan; Bekbosynova, Mahabbat; Akilzhanova, Ainur (International conference "MODERN PERSPECTIVES FOR BIOMEDICAL SCIENCES: FROM BENCH TO BEDSIDE”; National Laboratory Astana, 2020)
    Background: Atrial fibrillation (AF) is a common arrhythmia of substantial public health importance, a major risk factor for stroke, heart failure, and other cardiovascular morbidities. Recent evidence demonstrates a ...