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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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

Author: Zeitz, Christina; Michiels, Christelle; Neuille, Marion; Friedburg, Christoph; Condroyer, Christel; Boyard, Fiona; Antonio, Aline; Bouzidi, Nassima; Milicevic, Diana; Veaux, Robin; Tourville, Aurore; Zoumba, Axelle; Seneina, Imene; Foussard, Marine; Andrieu, Camille; Preising, Markus N.; Blanchard, Steven; Saraiva, Jean-Paul; Mesrob, Lilia; Le Floch, Edith; Jubin, Claire; Meyer, Vincent; Blanche, Helene; Boland, Anne; Deleuze, Jean-Francois; Sharon, Dror; Drumare, Isabelle; Defoort-Dhellemmes, Sabine; De Baere, Elfride; Leroy, Bart P.; Zanlonghi, Xavier; Casteels, Ingele; de Ravel, Thorny J.; Balikova, Irina; Koenekoop, Rob K.; Laffargue, Fanny; McLean, Rebecca; Gottlob, Irene; Bonneau, Dominique; Schorderet, Daniel F.; Munier, Francis L.; McKibbin, Martin; Prescott, Katrina; Pelletier, Valerie; Dollfus, Helene; Perdomo-Trujillo, Yaumara; Faure, Celine; Reiff, Charlotte; Wissinger, Bernd; Meunier, Isabelle; Kohl, Susanne; Banin, Eyal; Zrenner, Eberhart; Jurklies, Bernhard; Lorenz, Birgit; Sahel, Jose-Alain; Audo, Isabelle
Tübinger Autor(en):
Wissinger, Bernd
Kohl, Susanne
Zrenner, Eberhart
Published in: Human Mutation (2019), Bd. 40, H. 6, S. 765-787
Verlagsangabe: Wiley
Language: English
Full text: http://dx.doi.org/10.1002/humu.23735
ISSN: 1098-1004
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
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