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In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2
Neurofibromatosis type 2 (NF2) is an autosomal-dominant disorder affecting about 1:33 000 newborns, mainly characterized by the development of tumors of the nervous system and ocular abnormalities. Around 85% of germline NF2 mutations are point mutations. Among them, ∼25% affect splicing and are ass...
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| Autores principales: | , , , , , , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Nature Publishing Group
2013
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3722955/ https://ncbi.nlm.nih.gov/pubmed/23188051 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.261 |
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