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Publicação
Next Generation Sequencing Improves Mitochondrial Diseases Diagnosis
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| 4.05 MB | Adobe PDF |
Orientador(es)
Resumo(s)
Objectives: The overall aim of our research project was to develop a Next Generation Sequencing strategy to identify nuclear disease causing-mutations in patients suspicious of mitochondrial disorders but without molecular etiology.
Descrição
Abstract publicado em: Journal of Inborn Errors of Metabolism and Screening (Special Supplement), 2017.
Palavras-chave
Doenças Genéticas NGS Mitochondrial diseases