Article

Allele-specific gene editing rescues pathology in a human model of Charcot-Marie-Tooth disease type 2E

2021-06-09

Abstract excerpt

<h4>ABSTRACT</h4> Many neuromuscular disorders are caused by dominant missense mutations that lead to dominant-negative or gain-of-function pathology. This category of disease is challenging to address via drug treatment or gene augmentation therapy because these strategies may not eliminate the effects of the mutant protein or RNA. Thus, effective treatments are severely lacking for these dominant diseases, whic...

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Identifiers and source

Literature Corpus work: 5370ab1a-da8e-5624-9514-9eeea79baf77
DOI: 10.1101/2021.06.09.447796

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