1) 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。
2) 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
3) Leber's hereditary optic neuropathy
Leber遗传性视神经病变
1.
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
4) hereditary optic neuritis
遗传性视神经炎
5) Optic nerve diseases/genetics
视神经疾病/遗传学
6) neurogenetic diseases
神经遗传病
1.
As the leading ailment of hereditary diseases,neurogenetic diseases have upgraded to level of gene concerned their etiology and pathogenesis with the advancement of molecular genetics.
神经遗传病作为临床医学各学科中种类居于首位的遗传性疾病,其研究随着分子遗传学的进步转入基因水平。
补充资料：神经病
神经病
通常是指周围神经的功能障碍和病变，尤其是指非炎症性的病变。与之相匹配的术语有脑病和脊髓病。
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