Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD

Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD

Collagen VI-related congenital muscular dystrophies (COL6-CMDs) are the second most common form of congenital muscular dystrophy. Currently, there is no effective treatment available. COL6-CMDs are caused by recessive or dominant mutations in one of the three genes encoding for the α chains of colla...

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Main Authors: Sara Aguti (Author), Véronique Bolduc (Author), Pierpaolo Ala (Author), Mark Turmaine (Author), Carsten G. Bönnemann (Author), Francesco Muntoni (Author), Haiyan Zhou (Author)
Format: Book
Published: Elsevier, 2020-09-01T00:00:00Z.
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