Leber's Hereditary Optic Neuropathy–Specific Heteroplasmic Mutation m.14495A>G Found in a Chinese Family

PURPOSE: Leber's hereditary optic neuropathy (LHON) is a mitochondrial DNA (mtDNA)-associated, maternally inherited eye disease. Mutation heteroplasmy level is one of the leading causes to trigger LHON manifestation. In this study, we aimed to identify the causative mutation in a large Han Chin...

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Bibliografiset tiedot
Julkaisussa:Transl Vis Sci Technol
Päätekijät: Li, Shouqing, Duan, Shan, Qin, Yueyuan, Lin, Sheng, Zheng, Kaifeng, Li, Xi, Zhang, Linghua, Gu, Xueying, Yao, Keqin, Wang, Baojiang
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: The Association for Research in Vision and Ophthalmology 2019
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Articles
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6615366/
https://ncbi.nlm.nih.gov/pubmed/31316863
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/tvst.8.4.3
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