Clinical Evidence for Variegated Silencing in Patients With Friedreich Ataxia

BACKGROUND AND OBJECTIVES: Friedreich ataxia (FRDA) is a neurodegenerative disease caused by a GAA triplet repeat (GAA-TR) expansion in intron 1 of the FXN gene. Patients have 100–1,300 GAA triplets compared with less than 30 in healthy controls. The GAA-TR expansion leads to FXN silencing, and cons...

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Detalles Bibliográficos
Autores principales: Rodden, Layne N., Rummey, Christian, Dong, Yi Na, Lynch, David R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9128033/
https://www.ncbi.nlm.nih.gov/pubmed/35620135
http://dx.doi.org/10.1212/NXG.0000000000000683

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