CERKL, a retinal disease gene, encodes an mRNA-binding protein that localizes in compact and untranslated mRNPs associated with microtubules.

por Alihamze Fathinajafabadi, Eva Pérez-Jiménez, Marina Riera, Erwin Knecht, Roser Gonzàlez-Duarte
Publicado 2014

Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.

por Marta de Castro-Miró, Esther Pomares, Laura Lorés-Motta, Raul Tonda, Joaquín Dopazo, Gemma Marfany, Roser Gonzàlez-Duarte
Publicado 2014

The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes

por Cristina Villanueva-Mendoza, Miquel Tuson, David Apam-Garduño, Marta de Castro-Miró, Raul Tonda, Jean Remi Trotta, Gemma Marfany, Rebeca Valero, Vianney Cortés-González, Roser Gonzàlez-Duarte
Publicado 2021