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Article

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

PloS one - 1 Jan 2020

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

Abstract excerpt

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 ataxia and epilepsy while mostly pure (ATTCT)n may have reduced penetrance. Large repeat expansions of SCA10, and many other...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32160188
DOI: 10.1371/journal.pone.0228789
PMCID: PMC7065784

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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