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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...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Hindawi Publishing Corporation
2014
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| Θέματα: | |
| Διαθέσιμο 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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