A Combined Nucleic Acid and Protein Analysis in Friedreich Ataxia: Implications for Diagnosis, Pathogenesis and Clinical Trial Design

BACKGROUND: Friedreich's ataxia (FRDA) is the most common hereditary ataxia among caucasians. The molecular defect in FRDA is the trinucleotide GAA expansion in the first intron of the FXN gene, which encodes frataxin. No studies have yet reported frataxin protein and mRNA levels in a large coh...

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Detalles Bibliográficos
Autores principales: Saccà, Francesco, Puorro, Giorgia, Antenora, Antonella, Marsili, Angela, Denaro, Alessandra, Piro, Raffaele, Sorrentino, Pierpaolo, Pane, Chiara, Tessa, Alessandra, Brescia Morra, Vincenzo, Cocozza, Sergio, De Michele, Giuseppe, Santorelli, Filippo M., Filla, Alessandro
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3055871/
https://www.ncbi.nlm.nih.gov/pubmed/21412413
http://dx.doi.org/10.1371/journal.pone.0017627

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