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A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds

Friedreich's ataxia (FRDA) is caused by large GAA expansions in intron 1 of the frataxin gene (FXN), which lead to reduced FXN expression through a mechanism not fully understood. Understanding such mechanism is essential for the identification of novel therapies for FRDA and this can be accele...

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Bibliografski detalji
Glavni autori: Lufino, Michele M.P., Silva, Ana M., Németh, Andrea H., Alegre-Abarrategui, Javier, Russell, Angela J., Wade-Martins, Richard
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2013
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3842177/
https://ncbi.nlm.nih.gov/pubmed/23943791
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt370
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