Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.
作者信息
Mackey D A, Oostra R J, Rosenberg T, Nikoskelainen E, Bronte-Stewart J, Poulton J, Harding A E, Govan G, Bolhuis P A, Norby S
出版信息
Am J Hum Genet. 1996 Aug;59(2):481-5.
Abstract
摘要
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本文引用的文献
1
Sporadic Leber hereditary optic neuropathy in Australia and New Zealand.
Aust N Z J Ophthalmol. 1996 Feb;24(1):7-14. doi: 10.1111/j.1442-9071.1996.tb01545.x.
2
Mitochondrial DNA sequence analysis of four Alzheimer's and Parkinson's disease patients.四名阿尔茨海默病和帕金森病患者的线粒体DNA序列分析
Am J Med Genet. 1996 Jan 22;61(3):283-9. doi: 10.1002/(SICI)1096-8628(19960122)61:3<283::AID-AJMG15>3.0.CO;2-P.
3
4
Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations.Leber遗传性视神经病变的眼科检查结果，特别提及线粒体DNA突变
Ophthalmology. 1996 Mar;103(3):504-14. doi: 10.1016/s0161-6420(96)30665-9.
5
Leber's hereditary optic neuropathy: the etiological role of a mutation in the mitochondrial cytochrome b gene.莱伯遗传性视神经病变：线粒体细胞色素b基因突变的病因学作用
Genetics. 1993 Jan;133(1):133-6. doi: 10.1093/genetics/133.1.133.
6
High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy.日本Leber遗传性视神经病变家族中线粒体ND4基因第11778位的高频突变
Hum Genet. 1993 Aug;92(1):101-2. doi: 10.1007/BF00216156.
7
Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation.
Hum Genet. 1994 Sep;94(3):265-70. doi: 10.1007/BF00208281.
8
A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.烟酰胺腺嘌呤二核苷酸脱氢酶亚基6基因第14459核苷酸对处的线粒体DNA突变，与母系遗传的Leber遗传性视神经病变和肌张力障碍相关。
Proc Natl Acad Sci U S A. 1994 Jun 21;91(13):6206-10. doi: 10.1073/pnas.91.13.6206.
9
10
The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation.由致病性线粒体DNA突变的存在所定义的Leber遗传性视神经病变的临床特征。
Brain. 1995 Apr;118 ( Pt 2):319-37. doi: 10.1093/brain/118.2.319.
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