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Browsing 02.National Laboratory Astana by Author "e55e69f1-81b9-449d-a88b-6876e84495e8"
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Nazarova, L.; Tolegen, N.; Bayanova, M.
(International conference "MODERN PERSPECTIVES FOR BIOMEDICAL SCIENCES: FROM BENCH TO BEDSIDE”; National Laboratory Astana, 2020)
Introduction. Database on hereditary diseases is one of the main tasks of healthcare. Register of hereditary
pathology allows to assess accurately the frequency of childbirths with various hereditary diseases
and congenital ...
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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 ...