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

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

Most diagnostic laboratories are confronted with the increasing demand for molecular diagnosis from patients and families and the ever-increasing genetic heterogeneity of visual disorders. Concerning Retinal Dystrophies (RD), almost 200 causative genes have been reported to date, and most families c...

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Bibliographic Details
Main Authors: Marta de Castro-Miró, Esther Pomares, Laura Lorés-Motta, Raul Tonda, Joaquín Dopazo, Gemma Marfany, Roser Gonzàlez-Duarte
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24516651/?tool=EBI

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https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24516651/?tool=EBI

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