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Article

Single-Tube Screen for Rapid Detection of Repeat Expansions in Seven Common Spinocerebellar Ataxias.

Clinical chemistry - 1 Jun 2022

Lian Mulias, Limwongse Chanin, Yoon Chui-Sheun, Lee Caroline G, Law Hai-Yang, Chong Samuel S

Abstract excerpt

BACKGROUND: The autosomal dominantly inherited and genetically heterogeneous spinocerebellar ataxias (SCAs) exhibit highly similar clinical presentations. Many are caused by repeat expansions, of which at least 8 involve CAG repeats. Repeat expansion detection is the only method to confirm disease status in symptomatic individuals. We present a novel strategy to simultaneously screen for the presence of CAG...

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PMID: 35262663
DOI: 10.1093/clinchem/hvac011

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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