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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...
Autores principales: | , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2018
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Materias: | |
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 |