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Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation

Friedreich ataxia is a degenerative disease caused by deficiency of the protein frataxin (FXN). An intronic expansion of GAA triplets in the FXN-encoding gene, FXN, causes gene silencing and thus reduced FXN protein levels. Although it is widely assumed that GAA repeats block transcription via the a...

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Detalles Bibliográficos
Autores principales: Punga, Tanel, Bühler, Marc
Formato: Online Artículo Texto
Lenguaje:English
Publicado: WILEY-VCH Verlag 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3377279/
https://www.ncbi.nlm.nih.gov/pubmed/20373285
http://dx.doi.org/10.1002/emmm.201000064