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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Détails bibliographiques
Publié dans:PLoS One
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Public Library of Science 2020
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7065784/
https://ncbi.nlm.nih.gov/pubmed/32160188
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0228789
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