Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Retinitis pigmentosa (RP) is a devastating form of retinal degeneration, with significant social and professional consequences. Molecular genetic information is invaluable for an accurate clinical diagnosis of RP due to its high genetic and clinical heterogeneity. Using a gene capture panel that cov...

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Main Authors: Wang, Feng, Wang, Hui, Tuan, Han-Fang, Nguyen, Duy H., Sun, Vincent, Keser, Vafa, Bowne, Sara J., Sullivan, Lori S., Luo, Hongrong, Zhao, Ling, Wang, Xia, Zaneveld, Jacques E., Salvo, Jason S., Siddiqui, Sorath, Mao, Louise, Wheaton, Dianna K., Birch, David G., Branham, Kari E., Heckenlively, John R., Wen, Cindy, Flagg, Ken, Ferreyra, Henry, Pei, Jacqueline, Khan, Ayesha, Ren, Huanan, Wang, Keqing, Lopez, Irma, Qamar, Raheel, Zenteno, Juan C., Ayala-Ramirez, Raul, Beatriz-Buentello-Volante, Fu, Qing, Simpson, David A., Li, Yumei, Sui, Ruifang, Silvestri, Giuliana, Daiger, Stephen P., Koenekoop, Robert K., Zhang, Kang, Chen, Rui
Formato: Artigo
Idioma:Inglês
Publicado: 2013
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3945441/
https://ncbi.nlm.nih.gov/pubmed/24154662
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-013-1381-5
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