Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders

Christina Zeitz, Christelle Michiels, Marion Neuillé, Christoph Friedburg, Christel Condroyer, Fiona Boyard, Aline Antonio, Nassima Bouzidi, Diana Milicevic, Robin Veaux, Aurore Tourville, Axelle Zoumba, Imene Seneina, Marine Foussard, Camille Andrieu, Markus N Preising, Steven Blanchard, Jean-Paul Saraiva, Lilia Mesrob, Edith Le FlochClaire Jubin, Vincent Meyer, Hélène Blanché, Anne Boland, Jean-François Deleuze, Dror Sharon, Isabelle Drumare, Sabine Defoort-Dhellemmes, Elfride De Baere, Bart P Leroy, Xavier Zanlonghi, Ingele Casteels, Thomy J de Ravel, Irina Balikova, Rob K Koenekoop, Fanny Laffargue, Rebecca McLean, Irene Gottlob, Dominique Bonneau, Daniel F Schorderet, Francis L Munier, Martin McKibbin, Katrina Prescott, Valerie Pelletier, Hélène Dollfus, Yaumara Perdomo-Trujillo, Céline Faure, Charlotte Reiff, Bernd Wissinger, Isabelle Meunier, Susanne Kohl, Eyal Banin, Eberhart Zrenner, Bernhard Jurklies, Birgit Lorenz, José-Alain Sahel, Isabelle Audo

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Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders

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Biochemistry, Genetics and Molecular Biology