Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy
Titel:
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy
Auteur:
Kaminska, Karolina Cancellieri, Francesca Quinodoz, Mathieu Moye, Abigail R. Bauwens, Miriam Lin, Siying Janeschitz-Kriegl, Lucas Hayman, Tamar Barberán-Martínez, Pilar Schlaeger, Regina Van den Broeck, Filip Ávila Fernández, Almudena Fernández-Caballero, Lidia Perea-Romero, Irene García-García, Gema Salom, David Mazzola, Pascale Zuleger, Theresia Poths, Karin Haack, Tobias B. Jacob, Julie Vermeer, Sascha Terbeek, Frédérique Feltgen, Nicolas Moulin, Alexandre P. Koutroumanou, Louisa Papadakis, George Browning, Andrew C. Madhusudhan, Savita Gränse, Lotta Banin, Eyal Sousa, Ana Berta Coutinho Santos, Luisa Kuehlewein, Laura De Angeli, Pietro Leroy, Bart P. Mahroo, Omar A. Sedgwick, Fay Eden, James Pfau, Maximilian Andréasson, Sten Scholl, Hendrik P.N. Ayuso, Carmen Millán, José M. Sharon, Dror Tsilimbaris, Miltiadis K. Vaclavik, Veronika Tran, Hoai V. Ben-Yosef, Tamar De Baere, Elfride Webster, Andrew R. Arno, Gavin Sergouniotis, Panagiotis I. Kohl, Susanne Santos, Cristina Rivolta, Carlo