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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
WILEY-VCH Verlag
2010
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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 |