Article

NIPBL 5'UTR Mutation: A Molecular Switch in Cohesin Complex- Related CdLS

2024-12-19

Abstract excerpt

<title>Abstract</title> <p>Cornelia de Lange Syndrome (CdLS) is a prevalent cohesinopathy, frequently arising from mutations in genes encoding components of the cohesin complex, with NIPBL being the most commonly affected. This study aimed to investigate the consequences of a 5' untranslated region (UTR) mutation (c.-467 C > T) in the <italic>NIPBL</italic> gene on gene expression, cohesin complex integrity, and...

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Literature Corpus work: 25705bf3-d96e-592f-9645-f8856ec47f95
DOI: 10.21203/rs.3.rs-5644103/v1

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