Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich’s Ataxia in a Location Dependent Manner

Friedreich’s ataxia (FRDA) is a comparatively rare autosomal recessive neurological disorder primarily caused by the homozygous expansion of a GAA trinucleotide repeat in intron 1 of the FXN gene. The repeat expansion causes gene silencing that results in deficiency of the frataxin protein leading t...

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Detalhes bibliográficos
Publicado no:Int J Mol Sci
Main Authors: Nethisinghe, Suran, Kesavan, Maheswaran, Ging, Heather, Labrum, Robyn, Polke, James M., Islam, Saiful, Garcia-Moreno, Hector, Callaghan, Martina F., Cavalcanti, Francesca, Pook, Mark A., Giunti, Paola
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2021
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8307455/
https://ncbi.nlm.nih.gov/pubmed/34299126
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22147507
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