Molecular BiologyMolecular Therapy — Nucleic AcidsPeer-reviewed
Allele-specific CRISPR/Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy
Véronique Bolduc, Katherine Sizov, Astrid Brull…·Carsten G. Bönnemann
This study uses allele-specific CRISPR/Cas9 to inactivate a pathogenic variant in COL6A1, showing improved editing efficiency and collagen VI matrix restoration in patient fibroblasts.
8 citations