Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54
PRORP基因中新发现的纯合变异体扩展了联合氧化磷酸化缺乏症的基因型谱<sup>54</sup>
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-023-01437-2
Smith, Thomas B; Rea, Alessandro; Thomas, Huw B; Thompson, Kyle; Oláhová, Monika; Maroofian, Reza; Zamani, Mina; He, Langping; Sadeghian, Saeid; Galehdari, Hamid; Lotan, Nava Shaul; Gilboa, Tal; Herman, Kristin C; McCorvie, Thomas J; Yue, Wyatt W; Houlden, Henry; Taylor, Robert W; Newman, William G; O'Keefe, Raymond T