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

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

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...

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Main Authors: Astrid Brull (Author), Apurva Sarathy (Author), Véronique Bolduc (Author), Grace S. Chen (Author), Riley M. McCarty (Author), Carsten G. Bönnemann (Author)
Format: Book
Published: Elsevier, 2024-06-01T00:00:00Z.
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