Browsing by Author "Costa, Claudia"
Now showing 1 - 1 of 1
Results Per Page
Sort Options
- Next generation sequencing: a golden tool in mitochondrial diseasesPublication . Nogueira, Celia; Pereira, Cristina; Silva, Lisbeth; Vieira, Luis; Leão Teles, Elisa; Campos, Teresa; Rodrigues, Esmeralda; Martins, Esmeralda; Bandeira, Anabela; Soares, Gabriela; Janeiro, Patricia; Costa, Claudia; Gaspar, Ana; Santos, Helena; Vilarinho, LauraThe 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.