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Genetic Defects of Mitochondrial Diseases: a Next Generation Sequencing Approach: relatório final
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Goal: We applied NGS to the analysis of whole mtDNA that greatly facilitates the characterization of patients suspicious of mitochondrial diseases in a timely and cost-effective fashion. Therefore, a similar strategy will be developed for nuclear encoded genes as single gene analysis of a short list of nuclear genes requires considerable time, effort and cost.
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Mitochondrial Diseases mtDNA Next Generation Sequencing NGS Doenças Mitocondriais Doenças Genéticas