Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment

por García-García, Gema, Sanchez-Navarro, Iker, Aller, Elena, Jaijo, Teresa, Fuster-Garcia, Carla, Rodríguez-Munoz, Ana, Vallejo, Elena, Tellería, Juan José, Vázquez, Selma, Beltrán, Sergi, Derdak, Sophia, Zurita, Olga, Villaverde-Montero, Cristina, Avila-Fernández, Almudena, Corton, Marta, Blanco-Kelly, Fiona, Hakonarson, Hakon, Millán, José M., Ayuso, Carmen
Publicado 2020