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MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1

The mismatch repair gene MSH3 has been implicated as a genetic modifier of the CAG·CTG repeat expansion disorders Huntington’s disease and myotonic dystrophy type 1. A recent Huntington’s disease genome-wide association study found rs557874766, an imputed single nucleotide polymorphism located withi...

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Detalles Bibliográficos
Autores principales: Flower, Michael, Lomeikaite, Vilija, Ciosi, Marc, Cumming, Sarah, Morales, Fernando, Lo, Kitty, Hensman Moss, Davina, Jones, Lesley, Holmans, Peter, Monckton, Darren G, Tabrizi, Sarah J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6598626/
https://www.ncbi.nlm.nih.gov/pubmed/31216018
http://dx.doi.org/10.1093/brain/awz115