A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele

Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a recently recognized neurodegenerative disease with onset in mid- to late adulthood. The genetic basis for a large proportion of Caucasian patients was recently shown to be the biallelic expansion of a pentanu...

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Detalhes bibliográficos
Publicado no:Brain
Main Authors: Beecroft, Sarah J, Cortese, Andrea, Sullivan, Roisin, Yau, Wai Yan, Dyer, Zoe, Wu, Teddy Y, Mulroy, Eoin, Pelosi, Luciana, Rodrigues, Miriam, Taylor, Rachael, Mossman, Stuart, Leadbetter, Ruth, Cleland, James, Anderson, Tim, Ravenscroft, Gianina, Laing, Nigel G, Houlden, Henry, Reilly, Mary M, Roxburgh, Richard H
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
Assuntos:
Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7526724/
https://ncbi.nlm.nih.gov/pubmed/32851396
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awaa203
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