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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2014
Materias:
Article
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

Internet

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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