MitochondrialDisease相关论文
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Mitochondrial diseases are clinical phenotypes associated with mitochondrial dysfunction, which can be caused by mutatio......
Mitochondrial diseases are caused by variants in both mitochondrial and nuclear genomes.A nuclear gene HPDL(4-hydroxyphe......
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目的:探讨NDUFAF5基因变异所致线粒体复合物Ⅰ缺陷临床表型特点及基因型。方法:回顾并随访2015年2月至2018年7月北京大学第一医院......
Solute carrier family 7 member 3a is involved in the development of nonalcoholic fatty liver disease
Genetic variations confer susceptibility to non-alcoholic fatty liver disease(NAFLD),but the associated genes are la......
目的 总结2例线粒体相关肾病患儿临床特征及基因突变的特点,提高对该病的认识.方法 收集2例线粒体相关肾病患儿的病史特点、肾脏病......
Stem Cell Ophthalmology Treatment Study (SCOTS):bone marrow-derived stem cells in the treatment of L
hTe Stem Cell Ophthalmology Treatment Study (SCOTS) is currently the largest-scale stem cell ophthal-mology trial regist......
线粒体呼吸链酶复合物V,也称为ATP合酶,是位于线粒体内膜上的大蛋白复合体,由2个功能性蛋白复合物F0及F1构成.复合物V是线粒体呼吸......
目的对10例MELAS型线粒体脑肌病患者进行线粒体DNA A3243G点突变的检测。方法 用PCR-限制性内切酶分析法(restriction analysis)，......
