机译:NDUFA6中的双级异构突变在早期发现其在早发孤立的线粒体复合体I缺乏
Wellcome Centre for Mitochondrial Research Institute of Neuroscience Medical School Newcastle;
Functional Proteomics;
Department of Biochemistry and Molecular Biology Monash Biomedicine Discovery Institute Monash;
Institute of Human Genetics Technische Universit?t München;
Wellcome Centre for Mitochondrial Research Institute of Neuroscience Medical School Newcastle;
Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust Churchill;
Department of Medical Genetics Cambridge Institute for Medical Research University of Cambridge;
Wellcome Centre for Mitochondrial Research Institute of Neuroscience Medical School Newcastle;
Department of Pediatrics Salzburger Landeskliniken and Paracelsus Medical University;
Cambridge University Hospitals NHS Foundation Trust Cambridge Biomedical Campus;
National Institute for Health Research Oxford Biomedical Research Centre Wellcome Centre for Human;
Department of Medical Genetics Cambridge Institute for Medical Research University of Cambridge;
Department of Inherited Metabolic Disease Guy’s and St. Thomas’ NHS Foundation Trusts Evelina;
Trevor Mann Baby Unit Brighton and Sussex University Hospitals NHS Trust;
Department of Pediatrics Drammen Sykehus;
Department of Pediatrics and Adolescent Medicine Division of Pediatric Neurology University;
Department of Pediatrics and Adolescent Medicine Division of Pediatric Neurology University;
Cologne Center for Genomics University of Cologne;
Institute of Physiology Czech Academy of Sciences;
Department of Neuroradiology Oxford University Hospitals NHS Foundation Trust;
Institute of Physiology Czech Academy of Sciences;
Department of Pediatrics Salzburger Landeskliniken and Paracelsus Medical University;
Department of Medical Genetics Cambridge Institute for Medical Research University of Cambridge;
Institute of Human Genetics Technische Universit?t München;
Department of Pediatrics Salzburger Landeskliniken and Paracelsus Medical University;
Wellcome Centre for Mitochondrial Research Institute of Neuroscience Medical School Newcastle;
Nuffield Department of Women’s and Reproductive Health University of Oxford;
Department of Biochemistry and Molecular Biology Monash Biomedicine Discovery Institute Monash;
Functional Proteomics;
Department of Pediatrics and Adolescent Medicine Division of Pediatric Neurology University;
Wellcome Centre for Mitochondrial Research Institute of Neuroscience Medical School Newcastle;
complex I; NDUFA6; mitochondrial disease; complexome profiling;
机译:NDUFA6中的双级异构突变在早期发现其在早发孤立的线粒体复合体I缺乏
机译:线粒体核糖体蛋白MRPS2中的双等异构均突变导致感觉文体听力丧失,低血糖和多种毒物复杂缺陷
机译:Ndufaf8的病原双等等位基因突变导致Leigh综合征与孤立的综合体I缺乏
机译:复杂I缺乏的细胞中的线粒体功能恢复
机译:线粒体DNA突变在少肌症中的作用:对线粒体“恶性循环”理论和细胞凋亡的影响。
机译:NDUFA6中的双等位基因突变在早期发作的孤立线粒体复合体I缺乏症中建立其作用。
机译:Ndufaf8的病原双等异位突变引起Leigh综合征,孤立的综合体I缺乏