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Mitochondrial disorders: insights into diagnosis and management in the new era of genomic medicine
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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
Palavras-chave
Mitochondrial Diseases NGS Doenças Genéticas