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Pentamidine reverses the splicing defects associated with myotonic dystrophy

Myotonic dystrophy (DM) is a genetic disorder caused by the expression (as RNA) of expanded CTG or CCTG repeats. The alternative splicing factor MBNL1 is sequestered to the expanded RNA repeats, resulting in missplicing of a subset of pre-mRNAs linked to symptoms found in DM patients. Current data s...

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Autors principals: Warf, M. Bryan, Nakamori, Masayuki, Matthys, Catherine M., Thornton, Charles A., Berglund, J. Andrew
Format: Artigo
Idioma:Inglês
Publicat: National Academy of Sciences 2009
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2774031/
https://ncbi.nlm.nih.gov/pubmed/19822739
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0903234106
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