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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Udgivet i:Genet Med
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: 2014
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4385427/
https://ncbi.nlm.nih.gov/pubmed/25474345
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2014.174
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