Mitochondrial disorders: insights into diagnosis and management in the new era of genomic medicine

http://hdl.handle.net/10400.18/5530

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Authors

Nogueira, Célia

Vilarinho, Laura

Pereira, Cristina

Leão Teles, Elisa

Rodrigues, Esmeralda

Janeiro, Patricia

Costa, Cláudia

Abstract(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.

Keywords

Mitochondrial Diseases NGS Doenças Genéticas

URI

http://hdl.handle.net/10400.18/5530

Research Projects

Genetic Defects of Mitochondrial Diseases: a Next Generation Sequencing Approach

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Collections

DGH - Posters/abstracts em congressos internacionais