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 J.M. Fernández‐Ayala, Elena García-Díaz, Clara Oliva, Maria del Mar O ́Callaghan, Abraham J. Paredes‐Fuentes, Pedro Moreno, Jordi Muchart, A. Nascimento, C. Ortez, Daniel Natera‐de Benito, M. Pineda, Noelia Rivera, Tyler R. Fortuna, Deepa Rajan, Plácido Navas, Leonardo Salviati, Francesc Palau, Dèlia Yubero, Àngels García‐Cazorla, Udai Bhan Pandey, Carlos Santos‐Ocaña, Rafael Artuch
Topics & Concepts
Coenzyme Q10BiologyInternal medicineTranscriptomeCompound heterozygosityGeneEndocrinologyGeneticsMutationMedicineGene expressionCoenzyme Q10 studies and effectsAdvanced battery technologies researchMetalloenzymes and iron-sulfur proteins