Prevalence of intronic repeat expansions in rfc1 in dutch patients with canvas and adult-onset ataxia

HIGHLIGHTS

• who: Fatemeh Ghorbani from the Department of Genetics, HPC CB50, University Medical Center Groningen, University of Groningen, , RB Groningen, The Netherlands have published the paper: Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia, in the Journal: (JOURNAL)
• what: The authors aimed to study the prevalence of the biallelic (AAGGG)n repeat expansion in nine cases with clinically putative CANVAS and two cohorts of combined 617 adult-onset ataxia cases from the Netherlands.
• how: The resulting data was analyzed using Genemapper software v5 (Applied Biosystems).
 



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