TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

Night vision requires signaling from rod photoreceptors to adjacent bipolar cells in the retina. Mutations in the genes NYX and GRM6, expressed in ON bipolar cells, lead to a disruption of the ON bipolar cell response. This dysfunction is present in patients with complete X-linked and autosomal-rece...

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Main Authors: Audo, Isabelle, Kohl, Susanne, Leroy, Bart P., Munier, Francis L., Guillonneau, Xavier, Mohand-Saïd, Saddek, Bujakowska, Kinga, Nandrot, Emeline F., Lorenz, Birgit, Preising, Markus, Kellner, Ulrich, Renner, Agnes B., Bernd, Antje, Antonio, Aline, Moskova-Doumanova, Veselina, Lancelot, Marie-Elise, Poloschek, Charlotte M., Drumare, Isabelle, Defoort-Dhellemmes, Sabine, Wissinger, Bernd, Léveillard, Thierry, Hamel, Christian P., Schorderet, Daniel F., De Baere, Elfride, Berger, Wolfgang, Jacobson, Samuel G., Zrenner, Eberhart, Sahel, José-Alain, Bhattacharya, Shomi S., Zeitz, Christina
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2009
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2775830/
https://ncbi.nlm.nih.gov/pubmed/19896113
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.10.013
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