Studying influence of mtDNA polymorphisms and polymorphic gene variants C677T MTHFR and A66G MTRR on clinical manifestations of mitochondrial dysfunction

dc.contributor.authorGrechanina, Elena
dc.contributor.authorGrechanina, Juliya
dc.date.accessioned2018-11-13T13:13:54Z
dc.date.available2018-11-13T13:13:54Z
dc.date.issued2017-09-10
dc.description.abstractThe research concept of clarifying diagnosis MTHD based on estimates population-genetic characteristics - frequency polymorphisms mtDNA polymorphic variants of genes and enzymes folate cycle. Found variable positions with high volatility and rate of mutations that affect the occurrence of sporadic mutations. It is shown that the population of Ukraine is characterized such distribution of genotypes and allele frequencies of genes MTHFR (C677T, A1298S, G1793A); MTRR (A66G); RFC-1 (G80A), which is characterized by high proportion homozigot MTRR (A66G) mutant allele and 66G, which due to high frequency of lesions of the central nervous system.ru_RU
dc.identifier.citationGrechanina Y. Studying influence of mtDNA polymorphisms and polymorphic gene variants C677T MTHFR and A66G MTRR on clinical manifestations of mitochondrial dysfunction / Y. Grechanina // Medical Education. – 2018. – Issue 12 (2), volume 52. – P. 1428–1461.ru_RU
dc.identifier.urihttps://repo.knmu.edu.ua/handle/123456789/21013
dc.language.isoenru_RU
dc.subjectmitochondrial dysfunctionru_RU
dc.subjectmitochondrial dysfunctionru_RU
dc.titleStudying influence of mtDNA polymorphisms and polymorphic gene variants C677T MTHFR and A66G MTRR on clinical manifestations of mitochondrial dysfunctionru_RU
dc.typeArticleru_RU

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