A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a progressive late-onset, neurological disease. Recently, a pentanucleotide expansion in intron 2 of RFC1 was identified as the genetic cause of CANVAS. We screened an Asian-Pacific cohort for CANVAS and identified a novel R...

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Detaylı Bibliyografya
Yayımlandı:Brain
Asıl Yazarlar: Scriba, Carolin K, Beecroft, Sarah J, Clayton, Joshua S, Cortese, Andrea, Sullivan, Roisin, Yau, Wai Yan, Dominik, Natalia, Rodrigues, Miriam, Walker, Elizabeth, Dyer, Zoe, Wu, Teddy Y, Davis, Mark R, Chandler, David C, Weisburd, Ben, Houlden, Henry, Reilly, Mary M, Laing, Nigel G, Lamont, Phillipa J, Roxburgh, Richard H, Ravenscroft, Gianina
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2020
Konular:
Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7780484/
https://ncbi.nlm.nih.gov/pubmed/33103729
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awaa263
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