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Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families

PURPOSE: Inherited retinal diseases (IRDs) are clinically and genetically heterogeneous showing progressive retinal cell death which results in vision loss. IRDs include a wide spectrum of disorders, such as retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), cone-rod dystrophy (CRD), and S...

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Detalles Bibliográficos
Autores principales: Tayebi, Naeimeh, Akinrinade, Oyediran, Khan, Muhammad Imran, Hejazifar, Arash, Dehghani, Alireza, Cremers, Frans P.M., Akhlaghi, Mohammadreza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377375/
https://www.ncbi.nlm.nih.gov/pubmed/30820146