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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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Detaylı Bibliyografya
Asıl Yazarlar: Juan Wu, Lijia Chen, Oi Sin Tam, Xiu-Feng Huang, Chi-Pui Pang, Zi-Bing Jin
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Hindawi Limited 2014-01-01
Seri Bilgileri:BioMed Research International
Online Erişim:http://dx.doi.org/10.1155/2014/302487
Etiketler: Etiketle
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