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Article

[Epigenetic regulation of clinical manifestations of Friedreich's disease].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2020

Nuzhny E P, Abramycheva N Yu, Nikolaeva N S, Ershova M V, Klyushnikov S A, Illarioshkin S N, Fedotova E Yu

Abstract excerpt

AIM: To study a methylation profile of FXN gene and its influence on the clinical phenotype of Friedreich's desease (FD). MATERIAL AND METHODS: The methylation pattern was analyzed in 17 patients with FD. Forty-five CpG-sites in the promoter region and the region of intron 1 of FXN: before the GAA-expansion (UP-GAA) and after the GAA-expansion (DOWN-GAA), were studied. RESULTS: Correlations between the...

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PMID: 32105265
DOI: 10.17116/jnevro202012001120

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