Functional benefit of CRISPR/Cas9-induced allele deletion for RYR1 dominant mutation
Mathilde Beaufils, Margaux Melka, Julie Brocard, Clement Benoit, Nagi Debbah, Kamel Mamchaoui, Norma Beatriz Romero, Anne-Frédérique Dalmas, Susana Quijano-Roy, Julien Fauré, John Rendu, Isabelle Marty
This study demonstrates the functional benefit of deleting a dominant RYR1 mutation using CRISPR/Cas9 in patient-derived muscle cells.
Molecular Therapy — Nucleic Acids · Jun 17, 2024Peer-reviewedNeuroscience