Next Generation Sequencing Improves Mitochondrial Diseases Diagnosis

• Author(s): Nogueira, Célia ; Vilarinho, Laura ; Pereira, Cristina ; Silva, Lisbeth ; Vieira, Luis ; Leão Teles, Elisa ; Rodrigues, Esmeralda ; Campos, Teresa ; Janeiro, Patrícia ; Costa, Claúdia ; Gaspar, Ana ; Soares, Gabriela ; Bandeira, Anabela ; Martins, Esmeralda ; Magalhães, Marina ; Sequeira, Sílvia ; Vieira, José Pedro ; Santos, Helena
• Date: 2017
• Persistent ID: http://hdl.handle.net/10400.18/5529
• Origin: Repositório Científico do Instituto Nacional de Saúde
• Subject(s): Doenças Genéticas; NGS; Mitochondrial diseases
• Document Type: Conference object
• Language: English
• Contributor(s): Repositório Científico do Instituto Nacional de Saúde

Description

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.