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Molecular Diagnosis in an Argentinean Mitochondrial Disorders Cohort

Martinez,Nerina; Rosales,Julieta; Medina,Nancy; Perez-Maturo,Josefina; Salinas,Valeria; Zavala,Lucia; Vega,Patricia; Rodríguez-Quiroga,Sergio

Abstract Mitochondrial diseases are multisystemic disorders characterized by an impairment of the mitochondrial respiratory chain. Diagnosis requires an approach that involves a high index of suspicion, molecular techniques and a careful selection of the tissue to be studied. Our goal was to develop and implement local strategies for diagnosing mitochondrial disorders, by standardizing procedures of molecular b...

Date: 2021   |   Origin: Oasisbr
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