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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Detalhes bibliográficos
Publicado no:EJIFCC
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: The Communications and Publications Division (CPD) of the IFCC 2018
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5949615/
https://ncbi.nlm.nih.gov/pubmed/29765283
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