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Article

The molecular pathogenesis of repeat expansion diseases

23 Dec 2021

Abstract excerpt

Expanded short tandem repeats in the genome cause various monogenic diseases, particularly neurological disorders. Since the discovery of a CGG repeat expansion in the FMR1 gene in 1991, more than 40 repeat expansion diseases have been identified to date. In the coding repeat expansion diseases, in which the expanded repeat sequence is located in the coding regions of genes, the toxicity of repeat polypeptides,...

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PMID: 34940797
DOI: 10.1042/bst20200143

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