Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland

Retinitis pigmentosa (RP) is a group of inherited retinal disorders characterized by progressive photoreceptor degeneration. An accurate molecular diagnosis is essential for disease characterization and clinical prognoses. A retinal capture panel that enriches 186 known retinal disease genes, includ...

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Detalhes bibliográficos
Publicado no:Hum Genet
Main Authors: Zhao, Li, Wang, Feng, Wang, Hui, Li, Yumei, Alexander, Sharon, Wang, Keqing, Willoughby, Colin E., Zaneveld, Jacques E., Jiang, Lichun, Soens, Zachry T., Earle, Philip, Simpson, David, Silvestri, Giuliana, Chen, Rui
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4347882/
https://ncbi.nlm.nih.gov/pubmed/25472526
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-014-1512-7
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