Integration of multigene panels for the diagnosis of hereditary retinal disorders using Next Generation Sequencing and bioinformatics approaches

In recent years, Next-Generation Sequencing (NGS) opened a new way for the study of pathogenic mechanisms and for molecular diagnosis of inherited disorders. In the present work, we focused our attention on the inherited retinal dystrophies (IRDs), a group of specific disorders of the retina, displa...

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Detalles Bibliográficos
Autores principales: Di Resta, Chiara, Spiga, Ivana, Presi, Silvia, Merella, Stefania, Pipitone, Giovanni Battista, Manitto, Maria Pia, Querques, Giuseppe, Parodi, Maurizio Battaglia, Ferrari, Maurizio, Carrera, Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Communications and Publications Division (CPD) of the IFCC 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5949615/
https://www.ncbi.nlm.nih.gov/pubmed/29765283

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