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Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17

✍ Scribed by Gao, Rui; Matsuura, Tohru; Coolbaugh, Mary; Zühlke, Christine; Nakamura, Koichiro; Rasmussen, Astrid; Siciliano, Michael J; Ashizawa, Tetsuo; Lin, Xi

Book ID
110027253
Publisher
Nature Publishing Group
Year
2007
Tongue
English
Weight
232 KB
Volume
16
Category
Article
ISSN
1018-4813

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Anticipation and intergenerational repea
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## Abstract Spinocerebellar ataxia type 17 (SCA17) is caused by expansion of a CAG/CAA repeat in the __TBP__ gene. Most pathogenic alleles are interrupted and are stably transmitted from parent to offspring without anticipation. We identified three SCA17 families with expansion of uninterrupted all