Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders
可变剪接扩大了 NDUFS6 相关线粒体疾病的临床范围
期刊:Genetics in Medicine
影响因子:6.6
doi:10.1016/j.gim.2024.101117
Camila Armirola-Ricaurte, Noortje Zonnekein, Georgios Koutsis, Silvia Amor-Barris, Ana Lara Pelayo-Negro, Derek Atkinson, Stephanie Efthymiou, Valentina Turchetti, Argyris Dinopoulos, Antonio Garcia, Mert Karakaya, German Moris, Ayşe Ipek Polat, Uluç Yiş, Carmen Espinos, Liedewei Van de Vondel, Els
