Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families

PURPOSE: With recent availability of next-generation sequencing (NGS), it is becoming more common to pursue disease-targeted panel testing rather than traditional sequential gene-by-gene dideoxy sequencing. In this report, we describe using NGS to identify multiple disease-causing mutations that con...

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Detalles Bibliográficos
Autores principales: Jones, Kaylie D., Wheaton, Dianna K., Bowne, Sara J., Sullivan, Lori S., Birch, David G., Chen, Rui, Daiger, Stephen P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5524430/
https://www.ncbi.nlm.nih.gov/pubmed/28761320

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