Referenced in: none

Automatically associated channels: TRP , TRPM , TRPM1

Title: Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.

Authors: Isabelle Audo, Kinga Bujakowska, Elise Orhan, Charlotte M Poloschek, Sabine Defoort-Dhellemmes, Isabelle Drumare, Susanne Kohl, Tien D Luu, Odile Lecompte, Eberhart Zrenner, Marie-Elise Lancelot, Aline Antonio, Aurore Germain, Christelle Michiels, Claire Audier, Mélanie Letexier, Jean-Paul Saraiva, Bart P Leroy, Francis L Munier, Saddek Mohand-Saïd, Birgit Lorenz, Christoph Friedburg, Markus Preising, Ulrich Kellner, Agnes B Renner, Veselina Moskova-Doumanova, Wolfgang Berger, Bernd Wissinger, Christian P Hamel, Daniel F Schorderet, Elfride De Baere, Dror Sharon, Eyal Banin, Samuel G Jacobson, Dominique Bonneau, Xavier Zanlonghi, Guylene Le Meur, Ingele Casteels, Robert Koenekoop, Vernon W Long, Francoise Meire, Katrina Prescott, Thomy de Ravel, Ian Simmons, Hoan Nguyen, Hélène Dollfus, Olivier Poch, Thierry Léveillard, Kim Nguyen-Ba-Charvet, José-Alain Sahel, Shomi S Bhattacharya, Christina Zeitz

Journal, date & volume: Am. J. Hum. Genet., 2012 Feb 10 , 90, 321-30

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/22325361

Abstract