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SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure

A large, non-coding ATTCT repeat expansion causes the neurodegenerative disorder, spinocerebellar ataxia type 10 (SCA10). In a subset of SCA10 patients, interruption motifs are present at the 5’ end of the expansion and strongly correlate with epileptic seizures. Thus, interruption motifs are a pred...

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Detalles Bibliográficos
Autores principales: McFarland, Karen N., Liu, Jilin, Landrian, Ivette, Godiska, Ronald, Shanker, Savita, Yu, Fahong, Farmerie, William G., Ashizawa, Tetsuo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4546671/
https://www.ncbi.nlm.nih.gov/pubmed/26295943
http://dx.doi.org/10.1371/journal.pone.0135906