Browsing by Author "Garai-Aramburu, Gonzaga"
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A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies
Ezquerra-Inchausti, Maitane; Anasagasti, Ander; Barandika, Olatz; Garai-Aramburu, Gonzaga; Galdós, Marta; López de Munain Arregui, Adolfo José; Irigoyen, Cristina; Ruiz-Ederra, Javier (Nature Publishing, 2018-09-18)Inherited retinal diseases (IRD) are a heterogeneous group of diseases that mainly affect the retina; more than 250 genes have been linked to the disease and more than 20 different clinical phenotypes have been described. ...