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...

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Vydáno v:J Huntingtons Dis
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: IOS Press 2021
Témata:
Research Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7990409/
https://ncbi.nlm.nih.gov/pubmed/33579864
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JHD-200433
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