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AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 c.4723A > T Mutation. Fact or Fiction?

Mutations in CEP290 encoding a centrosomal protein important to cilia formation cause a spectrum of diseases, from isolated retinal dystrophies to multivisceral and sometimes embryo–lethal ciliopathies. In recent years, endogenous and/or selective non-canonical exon skipping of mutant exons have bee...

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Bibliografiska uppgifter
I publikationen:Genes (Basel)
Huvudupphovsmän: Barny, Iris, Perrault, Isabelle, Michel, Christel, Goudin, Nicolas, Defoort-Dhellemmes, Sabine, Ghazi, Imad, Kaplan, Josseline, Rozet, Jean-Michel, Gerard, Xavier
Materialtyp: Artigo
Språk:Inglês
Publicerad: MDPI 2019
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6562928/
https://ncbi.nlm.nih.gov/pubmed/31091803
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes10050368
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