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The chemical chaperone 4-phenylbutyric acid rescues molecular cell defects of COL3A1 mutations that cause vascular Ehlers Danlos Syndrome

Ramla Omar, Michelle Lee, Laura Gonzalez-Trueba, Spyridonas Lianos, Snoopy Hazarika, Malak A Ammar,Jennifer Cassels,Alison M. Michie,Neil J Bulleid,Fransiska Malfait,Tom Van Agtmael

biorxiv(2024)

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