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Targeted next-generation sequencing extends the phenotypic and mutational spectrums for EYS mutations
PURPOSE: We aim to determine genetic lesions with a phenotypic correlation in four Chinese families with autosomal recessive retinitis pigmentosa (RP). METHODS: Medical histories were carefully reviewed. All patients received comprehensive ophthalmic evaluations. The next-generation sequencing (NGS)...
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| Publicado no: | Mol Vis |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Molecular Vision
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4911908/ https://ncbi.nlm.nih.gov/pubmed/27375351 |
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