Anticipation in Leber′s hereditary optic neuropathy;
Leber遗传性视神经病遗传早发现象观察
The purpose of the study is to investigate the frequency of common pathogenic primary mitochondrial DNA mutations in pedigrees of Leber′s hereditary optic neuropathy (LHON).
为探讨Leber遗传性视神经病变(Leber′shereditaryopticneuropathy,LHON)家系线粒体DNA(mtDNA)常见致病原发突变的频谱,用聚合酶链反应(polymerasechainreaction,PCR)和单链构象多态性(single strandedconformationalpolymorphism,SSCP)以及DNA测序的方法,对13个家系22位临床诊断为LHON的患者及其母系亲属21人的线粒体DNA进行检测,同时检测71例正常人作为对照。
Detection of Leber hereditary optic neuropathy using single strand conformation polymorphism analysis;
单链构象多态性分析检测Leber遗传性视神经病变
mtDNA mutation detection in Leber hereditary optic neuropathy families;
Leber遗传性视神经病变家系线粒体DNA突变检测
Penetrance of Leber hereditary optic neuropathy individuals with mitochondrial DNA 11778 mutation in the Shanxi area;
山西地区线粒体DNA11778突变所致Leber遗传性视神经病变外显率分析
Heteroplasmy of Leber's hereditary optic neuropathy families with 11778 mutation
Leber遗传性视神经病变11778突变家系异质性的研究
The Genetic Analysis of Leber s Hereditary Optic Neuropathy in Chinese Pedigrees with Mitochondrial DNA Mutations;
Leber遗传性视神经病突变位点的研究
Heteroplasmy of Leber's hereditary optic neuropathy families with 11778 mutation
Leber遗传性视神经病变11778突变家系异质性的研究
Molecular Biological Detection of Leber Hereditary Optic Neuropathy;
Leber遗传性视神经病变的分子生物学检测
The Study of mtDNA Mutation in Leber Hereditary Optic Neuropathy;
Leber遗传性视神经病变线粒体DNA突变的研究
Molecular Genetic and Clinical Study of Chinese Leber Hereditary Optic Neuropathy
中国人Leber遗传性视神经病变的分子遗传学和临床研究
Penetrance and mutations of mitochodrial DNA 11778 in Chinese Leber's hereditary optic neuropathy patients of Han nationality
中国汉族Leber遗传性视神经病线粒体DNA 11778位点突变与外显率分析
The Detection of Mutation on Mitochondrial DNA and Clinical Analysis in Leber Hereditary Optic Neuropathy--A Pedigree of 18 Person;
Leber遗传性视神经病变线粒体DNA突变检测及临床分析——一家系18人
Study on Therapy of Wu Zi Yan Zong Tang to Leber Hereditary Optic Neuropathy and Effects to Mitochondrial Membrane Potential;
五子衍宗汤治疗Leber遗传性视神经病变及对线粒体膜电位的影响
Clinical Study on Treatment of Leber Hereditary Optic Neuropathy by Wuzi Yanzong Decoction
五子衍宗汤治疗Leber遗传性视神经病变的临床研究
Effect of Wuzi Yanzong Decoction to mitochondrial membrane potential of patients with Leber hereditary optic neuropathy
五子衍宗汤对Leber遗传性视神经病变患者线粒体膜电位的影响
Analysis of the Causing Mutation and Research on X-linked Gene of Leber's Hereditary Optic Neuropathy Families
Leber遗传性视神经病变家系致病基因筛查和X染色体修饰基因的研究
Effect of Wuzi Yanzong Decoction of mitochondrial DNA mutation ratios in patients with Leber hereditary optic neuropathy
五子衍宗汤对Leber遗传性视神经病变患者线粒体基因突变比率的影响
The role of mitochondrial dysfunction in hereditary optic neuropathy
线粒体功能缺陷在遗传性视神经病变发病机制中的作用
Analysis of Mitochondrial DNA Mutation in Leber Hereditary Optic Neuropathy (LHON) in Two Chinese Pedigrees;
2个Leber视神经萎缩（LHON）家系线粒体DNA突变的分析
hereditary optic neuritis
家族遗传性球后视神经炎
hereditary metabolic diseases of nervous system
神经系统遗传代谢病
Chinese patients with distal hereditary motor neuropathy:an analysis of clinical characteristics
远端型遗传性运动神经病的临床特征分析
hereditary angioneurotic edema(HAE)
遗传性血管神经水肿