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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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Brain
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2020
Konular:
Reports
Online Erişim: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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