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Restoration of the Normal Splicing Pattern of the PLP1 Gene by Means of an Antisense Oligonucleotide Directed against an Exonic Mutation
An exonic missense mutation, c.436C>G, in the PLP1 gene of a patient affected by the hypomyelinating leukodystrophy, Pelizaeus–Merzbacher disease, has previously been found to be responsible for the alteration of the canonical alternative splicing profile of the PLP1 gene leading to the loss of t...
Autores principales: | Regis, Stefano, Corsolini, Fabio, Grossi, Serena, Tappino, Barbara, Cooper, David N., Filocamo, Mirella |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3760819/ https://www.ncbi.nlm.nih.gov/pubmed/24019930 http://dx.doi.org/10.1371/journal.pone.0073633 |
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