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A Novel MERTK Mutation Causing Retinitis Pigmentosa
PURPOSE: Retinitis pigmentosa (RP) is a genetically heterogeneous inherited retinal dystrophy. To date, over 80 genes have been implicated in RP. However, the disease demonstrates significant locus and allelic heterogeneity not entirely captured by current testing platforms. The purpose of the prese...
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| Vydáno v: | Graefes Arch Clin Exp Ophthalmol |
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| Hlavní autoři: | , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2017
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5542860/ https://ncbi.nlm.nih.gov/pubmed/28462455 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00417-017-3679-9 |
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