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Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions

Spinocerebellar ataxia type 10 (SCA10), an autosomal dominant cerebellar ataxia disorder, is caused by a non-coding ATTCT microsatellite repeat expansion in the ataxin 10 gene. In a subset of SCA10 families, the 5’-end of the repeat expansion contains a complex sequence of penta- and heptanucleotide...

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Detalles Bibliográficos
Autores principales: Landrian, Ivette, McFarland, Karen N., Liu, Jilin, Mulligan, Connie J., Rasmussen, Astrid, Ashizawa, Tetsuo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5397023/
https://www.ncbi.nlm.nih.gov/pubmed/28423040
http://dx.doi.org/10.1371/journal.pone.0175958