Intron retention induced by microsatellite expansions as a disease biomarker

Expansions of simple sequence repeats, or microsatellites, have been linked to ∼30 neurological–neuromuscular diseases. While these expansions occur in coding and noncoding regions, microsatellite sequence and repeat length diversity is more prominent in introns with eight different trinucleotide to...

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Dades bibliogràfiques
Publicat a:Proc Natl Acad Sci U S A
Autors principals: Sznajder, Łukasz J., Thomas, James D., Carrell, Ellie M., Reid, Tammy, McFarland, Karen N., Cleary, John D., Oliveira, Ruan, Nutter, Curtis A., Bhatt, Kirti, Sobczak, Krzysztof, Ashizawa, Tetsuo, Thornton, Charles A., Ranum, Laura P. W., Swanson, Maurice S.
Format: Artigo
Idioma:Inglês
Publicat: National Academy of Sciences 2018
Matèries:
Biological Sciences
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5910826/
https://ncbi.nlm.nih.gov/pubmed/29610297
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1716617115
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