2) Leber disease
Leber病
3) Leber/diagnosis
Leber/诊断
4) Leber congenital amaurosis
Leber先天性黑蒙
1.
Clinical analysis and candidate gene mutational screening in children with Leber congenital amaurosis;
Leber先天性黑蒙临床与GUCY2D基因突变分析
5) Leber's hereditary optic neuropathy
Leber遗传性视神经病
1.
Anticipation in Leber′s hereditary optic neuropathy;
Leber遗传性视神经病遗传早发现象观察
2.
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。
6) Leber hereditary optic neuropathy
Leber遗传性视神经病变
1.
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
2.
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
3.
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
补充资料：病病恙恙
1.形容多病衰弱的样子。
说明：补充资料仅用于学习参考，请勿用于其它任何用途。
参考词条