mtDNA heteroplasmy in Leber hereditary optic neuroretinopathy.

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作者信息

Cormier V, Rötig A, Geny C, Cesaro P, Dufier J L, Munnich A

出版信息

Am J Hum Genet. 1991 Apr;48(4):813-4.

PMID:2064658

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1682960/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1b11/1682960/d39d99a6bf42/ajhg00088-0176-a.jpg

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引用本文的文献

Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing.

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Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation.对携带致病性线粒体DNA突变的Leber遗传性视神经病变家族进行系谱分析。

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本文引用的文献

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.与莱伯遗传性视神经病变相关的线粒体DNA突变。

Science. 1988 Dec 9;242(4884):1427-30. doi: 10.1126/science.3201231.

Genetic heterogeneity in Leber hereditary optic neuroretinopathy revealed by mitochondrial DNA polymorphism.线粒体DNA多态性揭示的Leber遗传性视神经视网膜病变中的遗传异质性

Am J Hum Genet. 1989 Aug;45(2):206-11.

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.

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