Rescue of the Friedreich Ataxia Knockout Mutation in Transgenic Mice Containing an FXN-EGFP Genomic Reporter

Friedreich ataxia (FRDA) is an autosomal recessive disorder characterized by neurodegeneration and cardiomyopathy. The presence of a GAA trinucleotide repeat expansion in the first intron of the FXN gene results in the inhibition of gene expression and an insufficiency of the mitochondrial protein f...

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Detalles Bibliográficos
Autores principales: Sarsero, Joseph P., Holloway, Timothy P., Li, Lingli, Finkelstein, David I., Ioannou, Panos A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965543/
https://www.ncbi.nlm.nih.gov/pubmed/24667739
http://dx.doi.org/10.1371/journal.pone.0093307

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