title: Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45.
authors.affiliation: a Service de Génétique Clinique, Centre de référence CLAD-Ouest, CHU Rennes , Rennes , France.
authors.forename: Mélanie
authors.initials: M
authors.lastname: Fradin
authors.affiliation: b Service de Génétique, CLAD-Ouest, CHU d'Angers , Angers , France.
authors.forename: Estelle
authors.initials: E
authors.lastname: Colin
authors.affiliation: c Clinique Ophtalmologique Saint Laurent , Rennes , France.
authors.forename: Daniele
authors.initials: D
authors.lastname: Hannouche-Bared
authors.affiliation: d INSERM U968, CNRS UMR_7210, Université Pierre et Marie Curie, Paris 06, UMR_S 968, Département de Génétique, Institut de la Vision , Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DHOSCIC 503 , Paris , France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Audo
authors.affiliation: d INSERM U968, CNRS UMR_7210, Université Pierre et Marie Curie, Paris 06, UMR_S 968, Département de Génétique, Institut de la Vision , Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DHOSCIC 503 , Paris , France.
authors.forename: Jose Alain
authors.initials: JA
authors.lastname: Sahel
authors.affiliation: e CEGAT , Tübingen , Germany.
authors.forename: Saskia
authors.initials: S
authors.lastname: Biskup
authors.affiliation: f Laboratoire de Génétique Moléculaire et Génomique, CHU Pontchaillou , Rennes , France.
authors.forename: Wilfried
authors.initials: W
authors.lastname: Carré
authors.affiliation: b Service de Génétique, CLAD-Ouest, CHU d'Angers , Angers , France.
authors.forename: Alban
authors.initials: A
authors.lastname: Ziegler
authors.affiliation: e CEGAT , Tübingen , Germany.
authors.forename: Christian
authors.initials: C
authors.lastname: Wilhelm
authors.affiliation: b Service de Génétique, CLAD-Ouest, CHU d'Angers , Angers , France.
authors.forename: Agnès
authors.initials: A
authors.lastname: Guichet
authors.affiliation: a Service de Génétique Clinique, Centre de référence CLAD-Ouest, CHU Rennes , Rennes , France.|g Université de Rennes 1 , CNRS UMR 6290, Rennes , France.
authors.forename: Sylvie
authors.initials: S
authors.lastname: Odent
authors.affiliation: b Service de Génétique, CLAD-Ouest, CHU d'Angers , Angers , France.|h UMR CNRS 6214 - INSERM 1083, Université d'Angers , Angers , France.
authors.forename: Dominique
authors.initials: D
authors.lastname: Bonneau
mesh_terms: D018389:Codon, Nonsense; D054815:Cyclic Nucleotide-Gated Cation Channels / Q000235:genetics*; D004596:Electroretinography; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012160:Retina / Q000502:physiology; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D041623:Tomography, Optical Coherence
chemical_list: C518235:CNGB1 protein, human; D018389:Codon, Nonsense; D054815:Cyclic Nucleotide-Gated Cation Channels