Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

BACKGROUND: Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are inherited retinal diseases that cause early onset severe visual impairment. An accurate molecular diagnosis can refine the clinical diagnosis and allow gene specific treatments. METHODS: We developed a capture pa...

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Hauptverfasser: Wang, Xia, Wang, Hui, Sun, Vincent, Tuan, Han-Fang, Keser, Vafa, Wang, Keqing, Ren, Huanan, Lopez, Irma, Zaneveld, Jacques E, Siddiqui, Sorath, Bowles, Stephanie, Khan, Ayesha, Salvo, Jason, Jacobson, Samuel G, Iannaccone, Alessandro, Wang, Feng, Birch, David, Heckenlively, John R, Fishman, Gerald A, Traboulsi, Elias I, Li, Yumei, Wheaton, Dianna, Koenekoop, Robert K, Chen, Rui
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2013
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3932025/
https://ncbi.nlm.nih.gov/pubmed/23847139
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2013-101558
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