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Phagosomal and mitochondrial alterations in RPE may contribute to KCNJ13 retinopathy
Mutations in KCNJ13 are associated with two retinal disorders; Leber congenital amaurosis (LCA) and snowflake vitreoretinal degeneration (SVD). We examined the retina of kcnj13 mutant zebrafish (obelix(td15), c.502T > C p.[Phe168Leu]) to provide new insights into the pathophysiology underlying th...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6405871/ https://www.ncbi.nlm.nih.gov/pubmed/30846767 http://dx.doi.org/10.1038/s41598-019-40507-8 |