Next generation sequencing: a golden tool in mitochondrial diseases

http://hdl.handle.net/10400.18/6368

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Authors

Nogueira, Celia

Pereira, Cristina

Leão Teles, Elisa

Rodrigues, Esmeralda

Martins, Esmeralda

Bandeira, Anabela

Soares, Gabriela

Abstract(s)

The development of Next Generation Sequencing (NGS) has revolutionized the diagnostic approach of mitochondrial disorders, particularly in children. The purpose of our project is to develop a NGS strategy to identify the genetic defect in 250 patients, to confirm the clinical diagnosis of the disease.

Keywords

Mitochondrial Diseases Gene Panel mtDNA Nuclear Genes Next Generation Sequencing NGS Diagnosis Doenças Mitocondriais Doenças Genéticas

URI

http://hdl.handle.net/10400.18/6368

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