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

  • 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, Hélne Dollfus, Olivier Poch, Thierry Léveillard, Kim Nguyen-Ba-Charvet, José Alain Sahel, Shomi S. Bhattacharya, Christina Zeitz*
*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

122 Scopus citations

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology