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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8307455/
https://www.ncbi.nlm.nih.gov/pubmed/34299126
http://dx.doi.org/10.3390/ijms22147507

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8307455/
https://www.ncbi.nlm.nih.gov/pubmed/34299126
http://dx.doi.org/10.3390/ijms22147507

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