A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes

BACKGROUND: Huntington disease (HD) is caused by an unstable CAG/CAA repeat expansion encoding a toxic polyglutamine tract. Here, we tested the hypotheses that HD outcomes are impacted by somatic expansion of, and polymorphisms within, the HTT CAG/CAA glutamine-encoding repeat, and DNA repair genes....

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Detalles Bibliográficos
Autores principales: Ciosi, Marc, Maxwell, Alastair, Cumming, Sarah A., Hensman Moss, Davina J., Alshammari, Asma M., Flower, Michael D., Durr, Alexandra, Leavitt, Blair R., Roos, Raymund A.C., Holmans, Peter, Jones, Lesley, Langbehn, Douglas R., Kwak, Seung, Tabrizi, Sarah J., Monckton, Darren G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Research paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6838430/
https://www.ncbi.nlm.nih.gov/pubmed/31607598
http://dx.doi.org/10.1016/j.ebiom.2019.09.020

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