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Genetic Variations Creating MicroRNA Target Sites in the FXN 3′-UTR Affect Frataxin Expression in Friedreich Ataxia

Friedreich’s ataxia (FRDA) is a severe neurodegenerative disease caused by GAA repeat expansion within the first intron of the frataxin gene. It has been suggested that the repeat is responsible for the disease severity due to impaired transcription thereby reducing expression of the protein. Howeve...

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Detalles Bibliográficos
Autores principales: Bandiera, Simonetta, Cartault, François, Jannot, Anne-Sophie, Hatem, Elie, Girard, Muriel, Rifai, Laila, Loiseau, Clemence, Munnich, Arnold, Lyonnet, Stanislas, Henrion-Caude, Alexandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3559822/
https://www.ncbi.nlm.nih.gov/pubmed/23382970
http://dx.doi.org/10.1371/journal.pone.0054791

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