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Functional correction by antisense therapy of a splicing mutation in the GALT gene

In recent years, antisense therapy has emerged as an increasingly important therapeutic approach to tackle several genetic disorders, including inborn errors of metabolism. Intronic mutations activating cryptic splice sites are particularly amenable to antisense therapy, as the canonical splice site...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Coelho, Ana I, Lourenço, Sílvia, Trabuco, Matilde, Silva, Maria João, Oliveira, Anabela, Gaspar, Ana, Diogo, Luísa, Tavares de Almeida, Isabel, Vicente, João B, Rivera, Isabel
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4666580/
https://ncbi.nlm.nih.gov/pubmed/25052314
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.149
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