Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency
- Alcázar-Fabra, M.
- Østergaard, E.
- Fernández-Ayala, D.J.M.
- Desbats, M.A.
- Morbidoni, V.
- Tomás-Gallardo, L.
- García-Corzo, L.
- Blanquer-Rosselló, M.D.M.
- Bartlett, A.K.
- Sánchez-Cuesta, A.
- Sena, L.
- Cortés-Rodríguez, A.
- Cascajo-Almenara, M.V.
- Pagliarini, D.J.
- Trevisson, E.
- Gronborg, S.W.
- Brea-Calvo, G.
Journal:
Molecular Genetics and Metabolism Reports
ISSN: 2214-4269
Year of publication: 2025
Volume: 42
Type: Article