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机译:线粒体ND3是Leber遗传性视神经病变和肌张力障碍的新型致病基因
Department of Pathology and Pathophysiology Graduate School Peking Union Medical College Beijing China;
Department of Neurology Graduate School of Medicine University of Tokyo Tokyo Japan;
Department of Neurology First Affiliated Hospital Anhui Medical University Hefei China;
Department of Pathology and Pathophysiology Graduate School Peking Union Medical College Beijing China;
Department of Neurology First Affiliated Hospital Anhui Medical University Hefei China;
Department of Neurology Graduate School of Medicine University of Tokyo Tokyo Japan;
Department of Pathology and Pathophysiology Graduate School Peking Union Medical College Beijing China;
Department of Neurology Graduate School of Medicine University of Tokyo Tokyo Japan;
Oxidative phosphorylation disorders; Leber hereditary optic neuropathy and dystonia (LDYT); ND3; Mitochondrion; Gene chip;
机译:线粒体ND3是Leber遗传性视神经病变和肌张力障碍的新型致病基因。
机译:使用线粒体杂合体将复杂的I缺陷分配给核苷酸对14459处的线粒体DNA编码的NADH脱氢酶亚基6基因突变,导致Leber遗传性视神经病变和肌张力障碍。
机译:由G14459A线粒体突变引起的Leber遗传性视神经病变和肌张力障碍。
机译:作为呼吸络合物的活性/去除酶转变的结构组分的线粒体Nd3亚基的鉴定
机译:Leber遗传性视神经病变和Stargardt病的综述:遗传咨询员在应对这两种疾病时的舒适度
机译:遗传性和生化损伤的线粒体复合体I活动的一个家庭与莱伯遗传性视神经病变和遗传性痉挛性肌张力障碍。
机译:使用线粒体杂合体将复杂的I缺陷分配给导致Leber遗传性视神经病变和肌张力障碍的核苷酸对14459处的线粒体DNA编码的NADH脱氢酶亚基6基因突变。