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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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Bibliografiset tiedot
Päätekijät: Castellanos, Elisabeth, Rosas, Imma, Solanes, Ares, Bielsa, Isabel, Lázaro, Conxi, Carrato, Cristina, Hostalot, Cristina, Prades, Pepe, Roca-Ribas, Francesc, Blanco, Ignacio, Serra, Eduard
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group 2013
Aiheet:
Linkit: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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