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Novel mutations in PDE6B causing human retinitis pigmentosa
AIM: To identify the genetic defects of a Chinese patient with sporadic retinitis pigmentosa (RP). METHODS: Ophthalmologic examinations were performed on the sporadic RP patient, 144 genes associated with retinal diseases were scanned with capture next generation sequencing (CNGS) approach. Two hete...
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| Τόπος έκδοσης: | Int J Ophthalmol |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
International Journal of Ophthalmology Press
2016
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4990571/ https://ncbi.nlm.nih.gov/pubmed/27588261 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18240/ijo.2016.08.02 |
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