Mutations of GEMIN5 are associated with coenzyme Q(10) deficiency: long-term follow-up after treatment
GEMIN5基因突变与辅酶Q10缺乏症相关：治疗后的长期随访
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-023-01526-2
Cascajo-Almenara, Marivi V; Juliá-Palacios, Natalia; Urreizti, Roser; Sánchez-Cuesta, Ana; Fernández-Ayala, Daniel M; García-Díaz, Elena; Oliva, Clara; O Callaghan, Maria Del Mar; Paredes-Fuentes, Abraham J; Moreno-Lozano, Pedro J; Muchart, Jordi; Nascimento, Andres; Ortez, Carlos I; Natera-de Benito, Daniel; Pineda, Mercedes; Rivera, Noelia; Fortuna, Tyler R; Rajan, Deepa S; Navas, Plácido; Salviati, Leonardo; Palau, Francesc; Yubero, Delia; García-Cazorla, Angels; Pandey, Udai Bhan; Santos-Ocaña, Carlos; Artuch, Rafael
