Article

Reconciling the effects of PMS2 in different repeat expansion disease models supports a common expansion mechanism

2024-08-13

Abstract excerpt

Expansion of a disease-specific tandem repeat is responsible for >45 Repeat Expansion Diseases (REDs). The expansion mutation in each of these diseases has different pathological consequences and most are currently incurable. If the underlying mechanism of mutation is shared, a strategy that slows repeat expansion in one RED may be applicable to multiple REDs. However, the fact that PMS2, a component of the MutLα...

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Literature Corpus work: 8e6d9ad2-d717-5629-8c63-5255c8e18dbc
DOI: 10.1101/2024.08.13.607839

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