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Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber’s hereditary optic neuropathy

PURPOSE: Focal neurodegeneration of the optic nerve in Leber hereditary optic neuropathy (LHON) is primarily due to a maternally inherited mitochondrial DNA mutation. However, the markedly reduced penetrance of LHON and segregation pattern of visual failure within families implicates an interacting...

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主要な著者: Hudson, Gavin, Yu-Wai-Man, Patrick, Zeviani, Massimo, Chinnery, Patrick F.
フォーマット: Artigo
言語:Inglês
出版事項: Molecular Vision 2009
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2676202/
https://ncbi.nlm.nih.gov/pubmed/19421414
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