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

Autor: Ciosi, M., Maxwell, A., Cumming, S.A., Moss, D.J.H., Alshammari, A.M., Flower, M.D., Durr, A., Leavitt, B.R., Roos, R.A.C., Holmans, P., Jones, L., Langbehn, D.R., Kwak, S., Tabrizi, S.J., Monckton, D.G., TRACK-HD Team, Enroll-HD Team

Publikováno v: EBioMedicine, Vol 48, Iss, Pp 568-580 (2019)
EBioMedicine, 48, 568-580
EBioMedicine
EBioMedicine, Elsevier, 2019, 48, pp.568-580. ⟨10.1016/j.ebiom.2019.09.020⟩

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/CA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a0529634a2334ae4526499f553a1668
https://orca.cardiff.ac.uk/id/eprint/125434/3/1-s2.0-S2352396419306243-main.pdf

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