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Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia
Recently, an intronic biallelic (AAGGG)(n) repeat expansion in RFC1 was shown to be a cause of CANVAS and adult-onset ataxia in multiple populations. As the prevalence of the RFC1 repeat expansion in Dutch cases was unknown, we retrospectively tested 9 putative CANVAS cases and two independent cohor...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9553829/ https://www.ncbi.nlm.nih.gov/pubmed/35864213 http://dx.doi.org/10.1007/s00415-022-11275-9 |