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Whole Exome Sequencing Reveals Genetic Predisposition in a Large Family with Retinitis Pigmentosa

Next-generation sequencing has become more widely used to reveal genetic defect in monogenic disorders. Retinitis pigmentosa (RP), the leading cause of hereditary blindness worldwide, has been attributed to more than 67 disease-causing genes. Due to the extreme genetic heterogeneity, using general m...

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Autori principali: Wu, Juan, Chen, Lijia, Tam, Oi Sin, Huang, Xiu-Feng, Pang, Chi-Pui, Jin, Zi-Bing
Natura: Artigo
Lingua:Inglês
Pubblicazione: Hindawi Publishing Corporation 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4102027/
https://ncbi.nlm.nih.gov/pubmed/25101269
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2014/302487
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