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High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency
Discovering the molecular basis of mitochondrial respiratory chain disease is challenging given the large number of both mitochondrial and nuclear genes involved. We report a strategy of focused candidate gene prediction, high-throughput sequencing, and experimental validation to uncover the molecul...
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| Главные авторы: | , , , , , , , , , , , , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2010
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2977978/ https://ncbi.nlm.nih.gov/pubmed/20818383 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.659 |
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