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Comprehensive analysis of Stargardt macular dystrophy patients reveals new genotype-phenotype correlations and unexpected diagnostic revisions
PURPOSE: Stargardt macular dystrophy (STGD) results in early central vision loss. We sought to explain the genetic cause of STGD in a cohort of 88 patients from three different cultural backgrounds. METHODS: Next Generation Sequencing using a novel capture panel was used to search for disease causin...
Autores principales: | Zaneveld, Jacques, Siddiqui, Sorath, Li, Huajin, Wang, Xia, Wang, Hui, Wang, Keqing, Li, Hui, Ren, Huanan, Lopez, Irma, Dorfman, Allison, Khan, Ayesha, Wang, Feng, Salvo, Jason, Gelowani, Violet, Li, Yumei, Sui, Ruifang, Koenekoop, Robert, Chen, Rui |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385427/ https://www.ncbi.nlm.nih.gov/pubmed/25474345 http://dx.doi.org/10.1038/gim.2014.174 |
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