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Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.
Hum Mol Genet. 2018 Aug 1;27(15):2689-2702. doi: 10.1093/hmg/ddy179.
Hum Mol Genet. 2018.
PMID: 29771326
AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 c.4723A > T Mutation. Fact or Fiction?
Barny I, Perrault I, Michel C, Goudin N, Defoort-Dhellemmes S, Ghazi I, Kaplan J, Rozet JM, Gerard X.
Barny I, et al.
Genes (Basel). 2019 May 14;10(5):368. doi: 10.3390/genes10050368.
Genes (Basel). 2019.
PMID: 31091803
Free PMC article.
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Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing.
Barny I, Perrault I, Rio M, Dollfus H, Defoort-Dhellemmes S, Kaplan J, Rozet JM, Gerard X.
Barny I, et al.
Adv Exp Med Biol. 2019;1185:189-195. doi: 10.1007/978-3-030-27378-1_31.
Adv Exp Med Biol. 2019.
PMID: 31884610
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