Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations

A biallelic pentanucleotide expansion in the RFC1 gene has been reported to be a common cause of late-onset ataxia. In the general population, four different repeat conformations are observed: wild type sequence AAAAG (11 repeats) and longer expansions of either AAAAG, AAAGG or AAGGG sequences. Howe...

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Detalles Bibliográficos
Autores principales: Akçimen, Fulya, Ross, Jay P., Bourassa, Cynthia V., Liao, Calwing, Rochefort, Daniel, Gama, Maria Thereza Drumond, Dicaire, Marie-Josée, Barsottini, Orlando G., Brais, Bernard, Pedroso, José Luiz, Dion, Patrick A., Rouleau, Guy A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6884024/
https://www.ncbi.nlm.nih.gov/pubmed/31824583
http://dx.doi.org/10.3389/fgene.2019.01219

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6884024/
https://www.ncbi.nlm.nih.gov/pubmed/31824583
http://dx.doi.org/10.3389/fgene.2019.01219

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