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

✍ Scribed by 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

• Book ID: 116195620
• Publisher: American Society of Human Genetics
• Year: 2012
• Tongue: English
• Weight: 37 KB
• Volume: 91
• Category: Article
• ISSN: 0002-9297
• DOI: 10.1016/j.ajhg.2012.06.001