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Mitochondrial A3243G mutation results in corneal endothelial polymegathism

PURPOSE: The mitochondrial DNA point mutation A3243G leads to a spectrum of syndromes ranging from MIDD to MELAS. Ocular manifestations include pattern macular dystrophy and concentric perifoveal atrophy. Given the high metabolic demand of corneal endothelial cells, we performed specular biomicrosco...

詳細記述

保存先:
書誌詳細
出版年:Graefes Arch Clin Exp Ophthalmol
主要な著者: Bakhoum, Mathieu F., Wu, Wei-Pu, White, Eugenia C., Sengillo, Jesse D., Sanfilippo, Christian, Morcos, Marcelle M., Freund, K. Bailey, Perry, Henry D., Sarraf, David, Tsang, Stephen H.
フォーマット: Artigo
言語:Inglês
出版事項: 2018
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6777962/
https://ncbi.nlm.nih.gov/pubmed/29376197
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00417-018-3914-z
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