Article

Correction of multiple splicing mutations associated with CFTR exon 18 using a single exon-specific U1 snRNA

2026-02-02

Abstract excerpt

<h4>ABSTRACT</h4> Splice site mutations represent a major class of pathogenic mutations in many diseases, as these changes disrupt normal splicing leading to gene expression changes. Cystic fibrosis (CF) results from mutations to the cystic fibrosis transmembrane conductance regulator (CFTR) gene that encodes an essential ion channel. Approximately 13% of the over 2,100 known CFTR mutations disrupt 3’ or 5’ splic...

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Literature Corpus work: 4480a44a-b023-5104-98bb-a122ff0bd549
DOI: 10.64898/2026.01.30.702834

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