Simultaneous occurrence of the 11778 (ND4) and the 9438 (COX III) mtDNA mutations in Leber hereditary optic neuropathy: molecular, biochemical, and clinical findings.
作者信息
Oostra R J, Van den Bogert C, Nijtmans L G, van Galen M J, Zwart R, Bolhuis P A, Bleeker-Wagemakers E M
出版信息
Am J Hum Genet. 1995 Oct;57(4):954-7.
Abstract
摘要
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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.
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Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.莱伯遗传性视神经病变：线粒体基因型与视觉预后的相关性
J Med Genet. 1994 Apr;31(4):280-6. doi: 10.1136/jmg.31.4.280.
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Mitochondrial gene mutations and human diseases: a prolegomenon.线粒体基因突变与人类疾病：绪论
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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.
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The relationship between mitochondrial genotype and mitochondrial phenotype in lymphoblasts with a heteroplasmic mtDNA deletion.
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