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Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing

PURPOSE: A majority of genes associated with inherited retinal diseases (IRDs) have been identified in patients of European origin. Indigenous African populations exhibit rich genomic diversity, and evaluation of reported genetic mutations has yielded low returns so far. Our goal was to perform whol...

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Detalles Bibliográficos
Autores principales: Roberts, Lisa, Ratnapriya, Rinki, du Plessis, Morné, Chaitankar, Vijender, Ramesar, Raj S., Swaroop, Anand
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5132076/
https://www.ncbi.nlm.nih.gov/pubmed/27898983
http://dx.doi.org/10.1167/iovs.16-19785