Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease-Reference-Cited by-同舟云学术

Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease

Published:2018-05-16 Issue:15 Volume:27 Page:2689-2702
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Barny Iris¹,Perrault Isabelle¹,Michel Christel¹,Soussan Mickael¹,Goudin Nicolas²,Rio Marlène³,Thomas Sophie⁴,Attié-Bitach Tania⁴,Hamel Christian⁵,Dollfus Hélène⁶,Kaplan Josseline¹,Rozet Jean-Michel¹,Gerard Xavier¹

Affiliation:

1. Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases

2. Cell Imaging Core Facility of the Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS3633, Imagine and Paris Descartes University, Paris, France

3. Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France

4. Laboratory of Embryology and Genetics of Human Malformation, INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, Paris, France

5. Centre de Référence des Affections Sensorielles Génétiques, Institut des Neurosciences de Montpellier, CHU-Saint Eloi Montpellier, Montpellier, France

6. Centre de Référence pour les Affections Génétiques Ophtalmologiques CARGO, CHRU Strasbourg, INSERM 1112, Université de Strasbourg, Strasbourg, France

Funder

Retina France

Fondation JED-Belgique

UNADEV-AVIESAN

ITMO

NNP

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/27/15/2689/25170201/ddy179.pdf