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Approaches to Sequence the HTT CAG Repeat Expansion and Quantify Repeat Length Variation
BACKGROUND: Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder caused by the expansion of the HTT CAG repeat. Affected individuals inherit ≥36 repeats and longer alleles cause earlier onset, greater disease severity and faster disease progression. The HTT CAG repeat is gen...
Autores principales: | Ciosi, Marc, Cumming, Sarah A., Chatzi, Afroditi, Larson, Eloise, Tottey, William, Lomeikaite, Vilija, Hamilton, Graham, Wheeler, Vanessa C., Pinto, Ricardo Mouro, Kwak, Seung, Morton, A. Jennifer, Monckton, Darren G. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
IOS Press
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7990409/ https://www.ncbi.nlm.nih.gov/pubmed/33579864 http://dx.doi.org/10.3233/JHD-200433 |
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