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The Ciliopathy Gene ahi1 Is Required for Zebrafish Cone Photoreceptor Outer Segment Morphogenesis and Survival
PURPOSE: Joubert syndrome (JBTS) is an autosomal recessive ciliopathy with considerable phenotypic variability. In addition to central nervous system abnormalities, a subset of JBTS patients exhibit retinal dystrophy and/or kidney disease. Mutations in the AHI1 gene are causative for approximately 1...
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| Izdano u: | Invest Ophthalmol Vis Sci |
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| Glavni autori: | , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
The Association for Research in Vision and Ophthalmology
2017
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5270624/ https://ncbi.nlm.nih.gov/pubmed/28118669 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.16-20326 |
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