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Molecular Diagnosis of Mitochondrial Disease with Targeted Next Generation Sequencing: a COhoRT of 250 patients
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Orientador(es)
Resumo(s)
Objectives: The purpose of our project was to develop a NGS strategy to identify the genetic defects
in 250 patients suspicious of mitochondrial disorders, to confirm the clinical and
biochemical diagnosis of the disease.
Descrição
Palavras-chave
Mitochondrial Disorders Next Generation Sequencing Molecular Diagnosis Doenças Genéticas