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- W2001736233 abstract "We report on a Chinese family with three members who have CAG repeat expansion in the ataxin-3, two members present with expanded trinucleotide repeat in both the ataxin-3 and tata-binding protein (TBP) and an individual who carries expanded CAG/CAA repeat in the TBP. Only the patients who carry an allele with expansion in the ataxin-3 gene presented with clinical symptoms. This interesting family presents a unique mutation state. We will continue to track this family in the future, which may help us further elucidate the pathogenic mechanism of spinocerebellar ataxia (SCA) type 3 and 17. The study also provides us a novel conception that mutations from two pathogenetic genes may coexist in one patient and SCA-affected patients with intermediate allele need to be further excluded for other SCA subtypes." @default.
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- W2001736233 date "2010-02-01" @default.
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- W2001736233 title "A Spinocerebellar Ataxia Family with Expanded Alleles in the Tata-Binding Protein Gene and<i>Ataxin-3</i>Gene" @default.
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- W2001736233 doi "https://doi.org/10.3109/00207450903389149" @default.
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