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Age-dependent somatic expansion of the<i>ATXN3</i>CAG repeat in the blood and buccal cell DNA of individuals with spinocerebellar ataxia type 3

2024-03-15

Abstract excerpt

Spinocerebellar ataxia type 3 (SCA3), a currently untreatable disorder, is caused by the expansion of a genetically unstable polyglutamine-encoding complex CAG repeat in the ATXN3 gene. Longer alleles are generally associated with earlier onset and frequent intergenerational expansions mediate the anticipation observed in this disorder. Somatic expansion of the repeat has also been implicated in disease progressio...

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Identifiers and source

Literature Corpus work
45244766-ba74-510e-99bc-958486277030
DOI
10.1101/2024.03.13.24303081
Open publication

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Age-dependent somatic expansion of the<i>ATXN3</i>CAG repeat in the blood and buccal cell DNA of individuals with spinocerebellar ataxia type 3DOI 10.1101/2024.03.13.24303081
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