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An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases
PURPOSE: We evaluate the power of a next-generation sequencing-based ophthalmic targeted sequencing panel (NGS-based OTSP) as a genetics-testing tool for patients suspected of a wide range of hereditary eye diseases. METHODS: NGS-based OTSP encompasses 126 genes with identified mutations that accoun...
Tallennettuna:
| Julkaisussa: | Transl Vis Sci Technol |
|---|---|
| Päätekijät: | , , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
The Association for Research in Vision and Ophthalmology
2019
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6497090/ https://ncbi.nlm.nih.gov/pubmed/31106028 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/tvst.8.2.21 |
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