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Browsing by Subject "MLPA"

Browsing by Subject "MLPA"

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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 ...
  • MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION OF MICRODELETION SYNDROMS 
    Uakhit, R.; Tolegen, N.; Bayanova, M. (International conference "MODERN PERSPECTIVES FOR BIOMEDICAL SCIENCES: FROM BENCH TO BEDSIDE”; National Laboratory Astana, 2020)
    Introduction: Microdeletion syndromes are an extensive group of diseases affecting various organs and systems. These diseases are caused by deletions of small sections of chromosomes. Previously, most microdeletion ...