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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Vydáno v:Brain
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2020
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On-line přístup: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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