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Influence of Friedreich Ataxia GAA Noncoding Repeat Expansions on Pre-mRNA Processing

The intronic GAA repeat expansion in the frataxin (FXN) gene causes the hereditary neurodegenerative disorder Friedreich ataxia. Although it is generally believed that GAA repeats block transcription elongation, direct proof in eukaryotic systems is lacking. We tested in hybrid minigenes the effect...

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Detalhes bibliográficos
Main Authors: Baralle, Marco, Pastor, Tibor, Bussani, Erica, Pagani, Franco
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2008
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2443835/
https://ncbi.nlm.nih.gov/pubmed/18597733
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.06.018
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