Genetic Defects of Mitochondrial Diseases: a Next Generation Sequencing Approach: relatório final

Nogueira, Celia; Laura, Vilarinho

http://hdl.handle.net/10400.18/6374

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Authors

Nogueira, Celia

Laura, Vilarinho

Abstract(s)

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.