ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement

PURPOSE. Photoreceptor degeneration (PRD) is a genetically heterogeneous retinal disorder. Although a number of genes involved in PRD have been identified, their genetic basis remains unknown in a significant number of patients. In this study, we aimed to identify novel disease-causing genes of PRD....

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Detalhes bibliográficos
Publicado no:Invest Ophthalmol Vis Sci
Main Authors: Xu, Mingchu, Gelowani, Violet, Eblimit, Aiden, Wang, Feng, Young, Marielle P., Sawyer, Briana L., Zhao, Li, Jenkins, Glen, Creel, Donnell J., Wang, Keqing, Ge, Zhongqi, Wang, Hui, Li, Yumei, Hartnett, M. Elizabeth, Chen, Rui
Formato: Artigo
Idioma:Inglês
Publicado em: The Association for Research in Vision and Ophthalmology 2015
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4468593/
https://ncbi.nlm.nih.gov/pubmed/26070061
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.15-16778
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