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A novel mutation in PRPF31, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencer
AIM: To study the genes responsible for retinitis pigmentosa. METHODS: A total of 15 Chinese families with retinitis pigmentosa, containing 94 sporadically afflicted cases, were recruited. The targeted sequences were captured using the Target_Eye_365_V3 chip and sequenced using the BGISEQ-500 sequen...
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| Publicat a: | Int J Ophthalmol |
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| Autors principals: | , , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
International Journal of Ophthalmology Press
2018
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5767654/ https://ncbi.nlm.nih.gov/pubmed/29375987 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18240/ijo.2018.01.06 |
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