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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2020
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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 |
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