Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency

  1. Alcázar-Fabra, M.
  2. Østergaard, E.
  3. Fernández-Ayala, D.J.M.
  4. Desbats, M.A.
  5. Morbidoni, V.
  6. Tomás-Gallardo, L.
  7. García-Corzo, L.
  8. Blanquer-Rosselló, M.D.M.
  9. Bartlett, A.K.
  10. Sánchez-Cuesta, A.
  11. Sena, L.
  12. Cortés-Rodríguez, A.
  13. Cascajo-Almenara, M.V.
  14. Pagliarini, D.J.
  15. Trevisson, E.
  16. Gronborg, S.W.
  17. Brea-Calvo, G.
Journal:
Molecular Genetics and Metabolism Reports

ISSN: 2214-4269

Year of publication: 2025

Volume: 42

Type: Article

DOI: 10.1016/J.YMGMR.2024.101176 GOOGLE SCHOLAR lock_openOpen access editor