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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?
Barny, Iris; Perrault, Isabelle; Michel, Christel; Goudin, Nicolas; Defoort-Dhellemmes, Sabine; Ghazi, Imad; Kaplan, Josseline; Rozet, Jean-Michel; Gerard, Xavier.
Affiliation
  • Barny I; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, 75015 Paris, France. iris.barny@institutimagine.org.
  • Perrault I; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, 75015 Paris, France. isabelle.perrault@inserm.fr.
  • Michel C; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, 75015 Paris, France. christel.michel@agroparistech.fr.
  • Goudin N; Cell Imaging Core Facility of the Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS3633, Imagine and Paris Descartes University, 75015 Paris, France. nicolas.goudin@inserm.fr.
  • Defoort-Dhellemmes S; Service D'exploration de la Vision et Neuro-Ophtalmologie, Pôle D'imagerie et Explorations Fonctionnelles, CHRU de Lille, 59037 Lille, France. sabine.defoort@chru-lille.fr.
  • Ghazi I; Department of Ophthalmology, IHU Necker-Enfants Malades, 75015 Paris, France. imad.ghazi@aphp.fr.
  • Kaplan J; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, 75015 Paris, France. josseline.kaplan@inserm.fr.
  • Rozet JM; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, 75015 Paris, France. jean-michel.rozet@inserm.fr.
  • Gerard X; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, 75015 Paris, France. xavier.gerard@fa2.ch.
Genes (Basel) ; 10(5)2019 05 14.
Article in En | MEDLINE | ID: mdl-31091803
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cell Cycle Proteins / Cytoskeletal Proteins / Retinal Dystrophies / Antigens, Neoplasm Limits: Humans / Male Language: En Journal: Genes (Basel) Year: 2019 Document type: Article Affiliation country: France Country of publication: Switzerland
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cell Cycle Proteins / Cytoskeletal Proteins / Retinal Dystrophies / Antigens, Neoplasm Limits: Humans / Male Language: En Journal: Genes (Basel) Year: 2019 Document type: Article Affiliation country: France Country of publication: Switzerland