Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?

X-linked retinoschisis (XLRS) is a retinal degenerative disorder caused by mutations in RS1 gene leading to splitting of retinal layers (schisis) which impairs visual signal processing. Retinoschisin (RS1) is an adhesive protein which is secreted predominantly by the photoreceptors and bipolar cells...

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Detalles Bibliográficos
Autores principales: Sudha, Dhandayuthapani, Neriyanuri, Srividya, Sachidanandam, Ramya, Natarajan, Srikrupa N., Gandra, Mamatha, Tharigopala, Arokiasamy, Sivashanmugam, Muthukumaran, Alameen, Mohammed, Vetrivel, Umashankar, Gopal, Lingam, Khetan, Vikas, Raman, Rajiv, Sen, Parveen, Chidambaram, Subbulakshmi, Arunachalam, Jayamuruga Pandian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5978886/
https://www.ncbi.nlm.nih.gov/pubmed/29851975
http://dx.doi.org/10.1371/journal.pone.0198086

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