A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease
OGDH 基因中的双等位基因致病变异导致具有线粒体疾病特征的神经系统疾病
期刊:Journal of Inherited Metabolic Disease
影响因子:4.2
doi:10.1002/jimd.12248
Zheng Yie Yap, Klaudia Strucinska, Satoshi Matsuzaki, Sukyeong Lee, Yue Si, Kenneth Humphries, Mark A Tarnopolsky, Wan Hee Yoon