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Article

CAG Repeat Expansion in THAP11 Is Associated with a Novel Spinocerebellar Ataxia

6 May 2023

Abstract excerpt

BACKGROUND: More than 50 loci are associated with spinocerebellar ataxia (SCA), and the most frequent subtypes share nucleotide repeats expansion, especially CAG expansion. OBJECTIVE: The objective of this study was to confirm a novel SCA subtype caused by CAG expansion. METHODS: We performed long-read whole-genome sequencing combined with linkage analysis in a five-generation Chinese family, and the finding was...

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PMID: 37148549
DOI: 10.1002/mds.29412

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