Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing

Leber congenital amaurosis (LCA) is a heterogeneous, early‐onset inherited retinal dystrophy, which is associated with severe visual impairment. We aimed to determine the disease‐causing variants in Iranian LCA and evaluate the clinical implications. Clinically, a possible LCA disease was found thro...

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Detalles Bibliográficos
Autores principales: Imani, Saber, Cheng, Jingliang, Mobasher‐Jannat, Abdolkarim, Wei, Chunli, Fu, Shangyi, Yang, Lisha, Jadidi, Khosrow, Khosravi, Mohammad Hossein, Mohazzab‐Torabi, Saman, Shasaltaneh, Marzieh Dehghan, Li, Yumei, Chen, Rui, Fu, Junjiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5824405/
https://www.ncbi.nlm.nih.gov/pubmed/29193763
http://dx.doi.org/10.1111/jcmm.13454

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