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Mutations in TOMM70 lead to multi-OXPHOS deficiencies and cause severe anemia, lactic acidosis, and developmental delay

Xiujuan Wei, Miaomiao Du, Jie Xie, Ting Luo, Yan Zhou, Kun Zhang, Jin Li, Deyu Chen, Pu Xu, Manli Jia, Huaibin Zhou, Hezhi Fang, Jianxin Lyu, Yanling Yang

2020Journal of Human Genetics34 citationsDOI

Topics & Concepts

Lactic acidosisBiologyOxidative phosphorylationGene knockdownMitochondrionMutantMutationMolecular biologyGeneticsBiochemistryGeneMitochondrial Function and PathologyATP Synthase and ATPases ResearchMetabolism and Genetic Disorders
Mutations in TOMM70 lead to multi-OXPHOS deficiencies and cause severe anemia, lactic acidosis, and developmental delay | Litcius