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...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Gepubliceerd in:Brain
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2020
Onderwerpen:
Report
Online toegang: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
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items