CGG-repeat length threshold for FMR1 RNA pathogenesis in a cellular model for FXTAS

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that affects carriers of premutation alleles (55–200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. The presence of elevated levels of expanded mRNA found in premutation carriers is believed to be th...

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Détails bibliographiques
Auteurs principaux: Hoem, Gry, Raske, Christopher R., Garcia-Arocena, Dolores, Tassone, Flora, Sanchez, Eleonora, Ludwig, Anna L., Iwahashi, Christine K., Kumar, Madhur, Yang, Jane E., Hagerman, Paul J.
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2011
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Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3090194/
https://ncbi.nlm.nih.gov/pubmed/21389081
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr101
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