Identification of respiratory chain complex I deficiency due to NDUFA5 variants as a novel cause of infantile fatal disease
鉴定出由 NDUFA5 变异引起的呼吸链复合物 I 缺陷是导致婴儿致命疾病的一种新病因
期刊:Genes and Diseases
影响因子:
doi:10.1016/j.gendis.2025.101920
Wang, Yang; Yang, Xi; Yan, Xue; Zhu, Yumin; Xia, Xue; Li, Ting; Liao, Yi; Lei, Bingkun; Yang, Jingmin; Li, Deyuan