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Somatic CAG expansion in Huntington's disease is dependent on the MLH3 endonuclease domain, which can be excluded via splice redirection

Somatic expansion of the CAG repeat tract that causes Huntington's disease (HD) is thought to contribute to the rate of disease pathogenesis. Therefore, factors influencing repeat expansion are potential therapeutic targets. Genes in the DNA mismatch repair pathway are critical drivers of somat...

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Detalles Bibliográficos
Autores principales: Roy, Jennie C L, Vitalo, Antonia, Andrew, Marissa A, Mota-Silva, Eduarda, Kovalenko, Marina, Burch, Zoe, Nhu, Anh M, Cohen, Paula E, Grabczyk, Ed, Wheeler, Vanessa C, Mouro Pinto, Ricardo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8053082/
https://www.ncbi.nlm.nih.gov/pubmed/33751106
http://dx.doi.org/10.1093/nar/gkab152