Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction

  1. Nogueira, C.
  2. Silva, L.
  3. Pereira, C.
  4. Vieira, L.
  5. Leão Teles, E.
  6. Rodrigues, E.
  7. Campos, T.
  8. Janeiro, P.
  9. Gaspar, A.
  10. Dupont, J.
  11. Bandeira, A.
  12. Martins, E.
  13. Magalhães, M.
  14. Sequeira, S.
  15. Vieira, J.P.
  16. Santos, H.
  17. Vilarinho, S.
  18. Vilarinho, L.
Journal:
Mitochondrion

ISSN: 1872-8278 1567-7249

Year of publication: 2019

Volume: 47

Pages: 309-317

Type: Article

DOI: 10.1016/J.MITO.2019.02.006 GOOGLE SCHOLAR