Optimized allele-specific silencing of the dominant-negative COL6A1 G293R substitution causing collagen VI-related dystrophy

• Главные авторы: Astrid Brull (Автор), Apurva Sarathy (Автор), Véronique Bolduc (Автор), Grace S. Chen (Автор), Riley M. McCarty (Автор), Carsten G. Bönnemann (Автор)
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• Опубликовано: Elsevier, 2024-06-01T00:00:00Z.
• Предметы: article
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Collagen VI-related dystrophies (COL6-RDs) are a group of severe, congenital-onset muscular dystrophies for which there is no effective causative treatment. Dominant-negative mutations are common in COL6A1, COL6A2, and COL6A3 genes, encoding the collagen α1, α2, and α3 (VI) chains. They act by incor...