Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease

PURPOSE: To devise a comprehensive multi-platform genetic testing strategy for inherited retinal disease and describe its performance in 1,000 consecutive families seen by a single clinician. METHODS: The clinical records of all patients seen by a single retina specialist between January 2010 and Ju...

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Detalhes bibliográficos
Publicado no:Ophthalmology
Main Authors: Stone, Edwin M., Andorf, Jeaneen L., Whitmore, S. Scott, DeLuca, Adam P., Giacalone, Joseph C., Streb, Luan M., Braun, Terry A., Mullins, Robert F., Scheetz, Todd E., Sheffield, Val C., Tucker, Budd A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5565704/
https://ncbi.nlm.nih.gov/pubmed/28559085
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ophtha.2017.04.008
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