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Repeat expansion disease: Progress and puzzles in disease pathogenesis

Repeat expansion mutations cause at least 22 inherited neurological diseases. The complexity of repeat disease genetics and pathobiology has revealed unexpected shared themes and mechanistic pathways among the diseases, for example, RNA toxicity. Also, investigation of the polyglutamine diseases has...

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Detalles Bibliográficos
Publicado en:Nat Rev Genet
Main Authors: La Spada, Albert R., Taylor, J. Paul
Formato: Artigo
Idioma:Inglês
Publicado: 2010
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4704680/
https://ncbi.nlm.nih.gov/pubmed/20177426
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nrg2748
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