The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation

Human Molecular Genetics - Tập 25 Số 3 - Trang 584-596 - 2016
Pingping Jiang1,2, Xiaofen Jin2, Yanyan Peng3,2, Meng Wang2, Hao Liu2, Xiaoling Liu4,5, Zengjun Zhang4,5, Yanchun Ji2, Juanjuan Zhang4,2,5, Min Liang2, Fuxin Zhao4,5, Yanhong Sun6, Minglian Zhang7, Xiangtian Zhou4,5, Ye Chen1,2, Jun Qin Mo8, Taosheng Huang3, Jia Qu4,5, Min‐Xin Guan1,2
1Collaborative Innovation Center forDiagnosis and Treatment of Infectious Diseases, Zhejiang University, Hangzhou, China,
2Institute of Genetics, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China
3Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati OH USA
4Attardi Institute of Mitochondrial Biomedicine, School ofLife Sciences, Wenzhou Medical College, Wenzhou, Zhejiang, China,
5School of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou, Zhejiang, China
6Department of Ophthalmology, Beijing University of Chinese Medicine and Pharmacology, Beijing, China
7Department of Ophthalmology, Hebei Provincial Eye Hospital, Xingtai, Hebei, China and
8Department of Pathology, Rady Children's Hospital, University of California School of Medicine, San Diego, CA, USA

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Human Molecular Genetics

Tập 25 Số 3

584-596

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