Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

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Hlavní autoři: Audo, Isabelle, Bujakowska, Kinga, Orhan, Elise, Poloschek, Charlotte M., Defoort-Dhellemmes, Sabine, Drumare, Isabelle, Kohl, Susanne, Luu, Tien D., Lecompte, Odile, Zrenner, Eberhart, Lancelot, Marie-Elise, Antonio, Aline, Germain, Aurore, Michiels, Christelle, Audier, Claire, Letexier, Mélanie, Saraiva, Jean-Paul, Leroy, Bart P., Munier, Francis L., Mohand-Saïd, Saddek, Lorenz, Birgit, Friedburg, Christoph, Preising, Markus, Kellner, Ulrich, Renner, Agnes B., Moskova-Doumanova, Veselina, Berger, Wolfgang, Wissinger, Bernd, Hamel, Christian P., Schorderet, Daniel F., De Baere, Elfride, Sharon, Dror, Banin, Eyal, Jacobson, Samuel G., Bonneau, Dominique, Zanlonghi, Xavier, Le Meur, Guylene, Casteels, Ingele, Koenekoop, Robert, Long, Vernon W., Meire, Francoise, Prescott, Katrina, de Ravel, Thomy, Simmons, Ian, Nguyen, Hoan, Dollfus, Hélène, Poch, Olivier, Léveillard, Thierry, Nguyen-Ba-Charvet, Kim, Sahel, José-Alain, Bhattacharya, Shomi S., Zeitz, Christina
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2012
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Erratum
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3397255/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.06.001
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