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Biallelic variants in the <i>NDUFAF6</i> cause mitochondrial respiratory complex assembly defects associated with Leigh syndrome in probands.

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作者: Yuwei,Zhou [1] ; Xiaofei,Zeng [2] ; Luyi,Zhang [2] ; Xiaojie,Yin [2] ; Xue,Ma [3] ; Keyi,Li [2] ; Peijing,Qiu [4] ; Xiaoting,Lou [1] ; Liqin,Jin [5] ; Ya,Wang [2] ; Yanling,Yang [3] ; Ting,Shen [4]
作者单位: Laboratory Medicine Center, Department of Genetic and Genomic Medicine, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, Zhejiang, China.;Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, China. [1] Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, China. [2] Department of Pediatrics, Peking University First Hospital, Beijing, China. [3] Eye Center, the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China. [4] Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, China.;Department of Scientific Research, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, Zhejiang, China. [5]
DOI 10.1016/j.ymgmr.2024.101168
PMID 39720739
发布时间 2025-01-04
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Molecular genetics and metabolism reports

2024年41卷

101168页

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