南方医科大学学报
表现型为视神经萎缩的NDUFV1基因新移码突变
张智科, 袁慧君, 张水馨
A novel frameshift NDUFV1 mutation in a child with the phenotype of optic nerve atrophy
南方医科大学学报 . 2021, (5): 789 -792 .  DOI: 10.12122/j.issn.1673-4254.2021.05.22