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A novel, ataxic mouse model of Ataxia Telangiectasia caused by a clinically relevant nonsense mutation

2020-11-23

Abstract excerpt

Ataxia Telangiectasia (A-T) and Ataxia with Ocular Apraxia Type 1 (AOA1) are devastating neurological disorders caused by null mutations in the genome stability genes, A-T mutated ( ATM ) and Aprataxin ( APTX ), respectively. Our mechanistic understanding and therapeutic repertoire for treating these disorders is severely lacking, in large part due to the failure of prior animal models with similar null mutation...

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Literature Corpus work
a9966955-c5dc-56d2-bae7-9a33019492b1
DOI
10.1101/2020.11.23.394098
Open publication

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A novel, ataxic mouse model of Ataxia Telangiectasia caused by a clinically relevant nonsense mutationDOI 10.1101/2020.11.23.394098
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