Next-Generation Sequencing–Based Molecular Diagnosis of a Chinese Patient Cohort With Autosomal Recessive Retinitis Pigmentosa

PURPOSE. Retinitis pigmentosa (RP) is a highly heterogeneous genetic disease; therefore, an accurate molecular diagnosis is essential for appropriate disease treatment and family planning. The prevalence of RP in China had been reported at 1 in 3800, resulting in an estimated total of 340,000 Chines...

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Detalhes bibliográficos
Main Authors: Fu, Qing, Wang, Feng, Wang, Hui, Xu, Fei, Zaneveld, Jacques E., Ren, Huanan, Keser, Vafa, Lopez, Irma, Tuan, Han-Fang, Salvo, Jason S., Wang, Xia, Zhao, Li, Wang, Keqing, Li, Yumei, Koenekoop, Robert K., Chen, Rui, Sui, Ruifang
Formato: Artigo
Idioma:Inglês
Publicado em: The Association for Research in Vision and Ophthalmology 2013
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3684217/
https://ncbi.nlm.nih.gov/pubmed/23661369
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.13-11672
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