Allelic mutations of the fourth subunit of NADH dehydrogenase are not pathogenetically important in 11778-negative Leber hereditary optic neuropathy.
作者信息
Johns D R
出版信息
Am J Hum Genet. 1991 Jun;48(6):1209-13.
Abstract
摘要
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引用本文的文献
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Mitochondrial ND-I mutation in Leber hereditary optic neuropathy.莱伯遗传性视神经病变中的线粒体ND-I突变
Am J Hum Genet. 1992 Apr;50(4):872-4.
本文引用的文献
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Sequence and organization of the human mitochondrial genome.人类线粒体基因组的序列与组织
Nature. 1981 Apr 9;290(5806):457-65. doi: 10.1038/290457a0.
2
A new manifestation of Leber's disease and a new explanation for the agency responsible for its unusual pattern of inheritance.莱伯氏病的一种新表现形式以及对其异常遗传模式的致病因素的一种新解释。
Brain. 1970;93(1):121-32. doi: 10.1093/brain/93.1.121.
3
Leber's hereditary optic neuropathy: mitochondrial and biochemical studies on muscle biopsies.莱伯遗传性视神经病变：肌肉活检的线粒体及生化研究
Br J Ophthalmol. 1987 Jul;71(7):531-6. doi: 10.1136/bjo.71.7.531.
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Directly repeated sequences associated with pathogenic mitochondrial DNA deletions.
Proc Natl Acad Sci U S A. 1989 Oct;86(20):8059-62. doi: 10.1073/pnas.86.20.8059.
5
Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.Leber遗传性视神经病变中的遗传异质性和线粒体DNA异质性
J Med Genet. 1989 Dec;26(12):739-43. doi: 10.1136/jmg.26.12.739.
6
A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy.
N Engl J Med. 1989 May 18;320(20):1331-3. doi: 10.1056/NEJM198905183202007.
7
Improved molecular-genetic diagnosis of Leber's hereditary optic neuropathy.
N Engl J Med. 1990 Nov 22;323(21):1488-9.
8
An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 gene.一例不涉及线粒体ND4基因突变的Leber遗传性视神经病变。
Am J Hum Genet. 1990 Oct;47(4):629-34.
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