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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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Vydáno v:Nucleic Acids Res
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2021
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8053082/
https://ncbi.nlm.nih.gov/pubmed/33751106
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkab152
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