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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Autores principales: de Castro-Miró, Marta, Pomares, Esther, Lorés-Motta, Laura, Tonda, Raul, Dopazo, Joaquín, Marfany, Gemma, Gonzàlez-Duarte, Roser
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3917917/
https://ncbi.nlm.nih.gov/pubmed/24516651
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0088410
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