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Genotyping single nucleotide polymorphisms for allele-selective therapy in Huntington disease

BACKGROUND: The huntingtin gene (HTT) pathogenic cytosine-adenine-guanine (CAG) repeat expansion responsible for Huntington disease (HD) is phased with single nucleotide polymorphisms (SNPs), providing targets for allele-selective treatments. OBJECTIVE: This prospective observational study defined t...

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Detalhes bibliográficos
Publicado no:Neurol Genet
Main Authors: Claassen, Daniel O., Corey-Bloom, Jody, Dorsey, E. Ray, Edmondson, Mary, Kostyk, Sandra K., LeDoux, Mark S., Reilmann, Ralf, Rosas, H. Diana, Walker, Francis, Wheelock, Vicki, Svrzikapa, Nenad, Longo, Kenneth A., Goyal, Jaya, Hung, Serena, Panzara, Michael A.
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7249892/
https://ncbi.nlm.nih.gov/pubmed/32548276
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000430
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