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Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1

Huntington’s disease is caused by an expanded CAG tract in HTT. The length of the CAG tract accounts for over half the variance in age at onset of disease, and is influenced by other genetic factors, mostly implicating the DNA maintenance machinery. We examined a single nucleotide variant, rs7972779...

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Detalles Bibliográficos
Autores principales: Lobanov, Sergey V., McAllister, Branduff, McDade-Kumar, Mia, Landwehrmeyer, G. Bernhard, Orth, Michael, Rosser, Anne E., Paulsen, Jane S., Lee, Jong-Min, MacDonald, Marcy E., Gusella, James F., Long, Jeffrey D., Ryten, Mina, Williams, Nigel M., Holmans, Peter, Massey, Thomas H., Jones, Lesley
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9445028/
https://www.ncbi.nlm.nih.gov/pubmed/36064847
http://dx.doi.org/10.1038/s41525-022-00317-w