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Article

Analysis of Putative Epigenetic Regulatory Elements in the FXN Genomic Locus.

International journal of molecular sciences - 12 May 2020

Fernández-Frías Iván, Pérez-Luz Sara, Díaz-Nido Javier

Abstract excerpt

Friedreich´s ataxia (FRDA) is an autosomal recessive disease caused by an abnormally expanded Guanine-Adenine-Adenine (GAA) repeat sequence within the first intron of the frataxin gene (FXN). The molecular mechanisms associated with FRDA are still poorly understood and most studies on FXN gene regulation have been focused on the region around the minimal promoter and the region in which triplet expansion occurs....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32408537
DOI: 10.3390/ijms21103410
PMCID: PMC7279236

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Analysis of Putative Epigenetic Regulatory Elements in the FXN Genomic Locus.PMID 32408537Read ↗

<i>FXN</i> methylation predicts expression and clinical outcome in Friedreich ataxiaSemantic proximity Read ↗

DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patientsSemantic proximity Read ↗

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