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Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing
PURPOSE: Advances in genetic sequencing technology have the potential to enhance testing for genes associated with genetically heterogeneous clinical syndromes, such as primary ciliary dyskinesia (PCD). The objective of this study was to investigate the performance characteristics of exon-capture te...
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| Autori principali: | , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2011
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3755008/ https://ncbi.nlm.nih.gov/pubmed/21270641 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/GIM.0b013e318203cff2 |
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