Publication
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment
Marivi V. Cascajo-Almenara, Natalia. Juliá-Palacios, Roser Urreizti, Ana Sánchez-Cuesta, Daniel M. Fernández-Ayala, Elena García-Díaz, Clara Oliva, Maria del Mar O´Callaghan, Abraham J. Paredes-Fuentes, Pedro J. Moreno-Lozano, Jordi Muchart, Andres Nascimento, Carlos I. Ortez, Daniel Natera-de Benito, Mercedes Pineda, Noelia Rivera, Tyler R. Fortuna, Deepa S. Rajan, Plácido Navas, Leonardo Salviati, Francesc Palau, Delia Yubero, Angels García-Cazorla, Udai Bhan Pandey, Carlos Santos-Ocaña, Rafael Artuch
European Journal of Human Genetics, February 2024, Springer Science + Business Media
DOI: 10.1038/s41431-023-01526-2