Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1

por Valero, Rebeca, de Castro-Miró, Marta, Jiménez-Ochoa, Sofía, Rodríguez-Ezcurra, Juan José, Marfany, Gemma, Gonzàlez-Duarte, Roser
Publicado 2019

Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing

por de Castro-Miró, Marta, Tonda, Raul, Escudero-Ferruz, Paula, Andrés, Rosa, Mayor-Lorenzo, Andrés, Castro, Joaquín, Ciccioli, Marcela, Hidalgo, Daniel A., Rodríguez-Ezcurra, Juan José, Farrando, Jorge, Pérez-Santonja, Juan J., Cormand, Bru, Marfany, Gemma, Gonzàlez-Duarte, Roser
Publicado 2016