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Pulse-Field capillary electrophoresis of repeat-primed PCR amplicons for analysis of large repeats in Spinocerebellar Ataxia Type 10

Large expansions of microsatellite DNA cause several neurological diseases. In Spinocerebellar ataxia type 10 (SCA10), the repeat interruptions change disease phenotype; an (ATTCC)(n) or a (ATCCT)(n)/(ATCCC)(n) interruption within the (ATTCT)(n) repeat is associated with the robust phenotype of atax...

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Detalles Bibliográficos
Autores principales: Hashem, Vera, Tiwari, Anjana, Bewick, Brittani, Teive, Helio A. G., Moscovich, Mariana, Schüele, Birgitt, Bushara, Khalaf, Bower, Matt, Rasmussen, Astrid, Tsai, Yu-Chih, Clark, Tyson, McFarland, Karen, Ashizawa, Tetsuo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7065784/
https://www.ncbi.nlm.nih.gov/pubmed/32160188
http://dx.doi.org/10.1371/journal.pone.0228789