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Marrosu et al., 2017 - Google Patents

Gapmer antisense oligonucleotides selectively suppress the mutant allele of COL6A3 gene and restore functional protein production in dominant Ullrich congenital …

Marrosu et al., 2017

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Document ID
1686128811398248625
Author
Marrosu E
Ala P
Muntoni F
Zhou H
Publication year

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Dominant negative mutations in the genes that encode the three major α-chains of collagen type VI, COL6A1, COL6A2 and COL6A3, account for more than 50% of Ullrich congenital muscular dystrophy and nearly all Bethlem myopathy patients. Gapmer antisense …
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    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09—Recombinant DNA-technology
    • C12N15/11—DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
    • C12N15/113—Non-coding nucleic acids modulating the expression of genes, e.g. antisense oligonucleotides; Antisense DNA or RNA; Triplex- forming oligonucleotides; Catalytic nucleic acids, e.g. ribozymes; Nucleic acids used in co-suppression or gene silencing
    • C12N15/1137—Non-coding nucleic acids modulating the expression of genes, e.g. antisense oligonucleotides; Antisense DNA or RNA; Triplex- forming oligonucleotides; Catalytic nucleic acids, e.g. ribozymes; Nucleic acids used in co-suppression or gene silencing against enzymes
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    • C12N2310/00—Structure or type of the nucleic acid
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    • C12N2310/11—Antisense
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    • C12N2310/00—Structure or type of the nucleic acid
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    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
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