眼内压升高作为Leber遗传性视神经病变视觉丧失的潜在风险因素

资源简介

眼内压升高作为Leber遗传性视神经病变视觉丧失的潜在风险因素

【数据集背景】

本数据集源站标题为《Raised Intraocular Pressure as a Potential Risk Factor for Visual Loss in Leber Hereditary Optic Neuropathy》。配套论文《Raised Intraocular Pressure as a Potential Risk Factor for Visual Loss in Leber Hereditary Optic Neuropathy》发表于 PLoS ONE（2013），DOI：10.1371/journal.pone.0063446。源站首次发布：2013-05-07。

【数据内容】

源站原始描述：Leber Hereditary Optic Neuropathy (LHON) is an important cause of inherited mitochondrial blindness among young adults. The majority of patients carry one of three mitochondrial DNA (mtDNA) point mutations: m.3460G>A, m.11778G>A and m.14484T>C, all of which affect critical complex I subunits of the mitochondrial respiratory chain. LHON is characterised by marked incomplete penetrance, clearly implying that the mtDNA mutation is insufficient on its own to trigger retinal ganglion cell dysfunction…

【数据结构与技术规格】

文件数 3 个，合计 21.01 MB。数据集 DOI：10.1371/journal.pone.0063446。

【主题与分类】

源站学科分类：Medicine、Biological Sciences。主题标签：neuroscience、Sensory systems、Visual system、Population biology、population genetics、mutation、Clinical genetics、Mitochondrial diseases、Leber hereditary optic neuropathy、neurology。

【适用方向】

源站学科分类标注为 Medicine、Biological Sciences。

【获取与许可】

源站页面：https://plos.figshare.com/articles/dataset/_Raised_Intraocular_Pressure_as_a_Potential_Risk_Factor_for_Visual_Loss_in_Leber_Hereditary_Optic_Neuropathy_/698946

使用许可：CC BY 4.0（https://creativecommons.org/licenses/by/4.0/）。

规范引用：Thouin, Anais; G. Griffiths, Philip; Hudson, Gavin; F. Chinnery, Patrick; Yu-Wai-Man, Patrick (2016). Raised Intraocular Pressure as a Potential Risk Factor for Visual Loss in Leber Hereditary Optic Neuropathy. PLOS ONE. Dataset

【使用注意】

· 源站最后修改于 2023-06-09，引用时请注意版本时效。