Frequent mutations of genes involved in OXPHOS and optic neuropathy detected by whole exome sequencing of 257 Glaucoma Patients

Huang Xiaobo; Xiao Xueshan; Jia Xiaoyun; Li Shiqiang; Wang Panfeng; Zhong Yimin; Guo Xiangming; Liu Xing; Zhang Qingjiong

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Frequent mutations of genes involved in OXPHOS and optic neuropathy detected by whole exome sequencing of 257 Glaucoma Patients

机译：通过257葡萄糖患者的整个外壳测序检测涉及毒物和视神经病变的基因的频繁突变

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来源
《Investigative ophthalmology & visual science》 |2016年第12期|共2页
作者
Huang Xiaobo; Xiao Xueshan; Jia Xiaoyun; Li Shiqiang; Wang Panfeng; Zhong Yimin; Guo Xiangming; Liu Xing; Zhang Qingjiong;
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作者单位

Sun Yat Sen Univ Zhongshan Ophthalm Ctr Guangzhou Guangdong Peoples R China;

Sun Yat Sen Univ Zhongshan Ophthalm Ctr Guangzhou Guangdong Peoples R China;

Sun Yat Sen Univ Zhongshan Ophthalm Ctr Guangzhou Guangdong Peoples R China;

Sun Yat Sen Univ Zhongshan Ophthalm Ctr Guangzhou Guangdong Peoples R China;

Sun Yat Sen Univ Zhongshan Ophthalm Ctr Guangzhou Guangdong Peoples R China;

Sun Yat Sen Univ Zhongshan Ophthalm Ctr Guangzhou Guangdong Peoples R China;

Sun Yat Sen Univ Zhongshan Ophthalm Ctr Guangzhou Guangdong Peoples R China;

Sun Yat Sen Univ Zhongshan Ophthalm Ctr Guangzhou Guangdong Peoples R China;

Sun Yat Sen Univ Zhongshan Ophthalm Ctr Guangzhou Guangdong Peoples R China;

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原文格式 PDF
正文语种 eng
中图分类眼科学;
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1. Frequent mutations of genes involved in OXPHOS and optic neuropathy detected by whole exome sequencing of 257 Glaucoma Patients [J] . Xiaobo Huang, Xueshan Xiao, Xiaoyun Jia, Investigative ophthalmology & visual science . 2016,第12期

机译：257例青光眼患者全外显子组测序发现OXPHOS和视神经病变相关基因的频繁突变
2. Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4-Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies (vol 68, pg 640, 2019) [J] . Journal of Molecular Neuroscience: MN . 2020,第4期

机译：全外壳测序鉴定了在中国家庭中的网旋翼4-相互作用蛋白1基因中的两种新突变，具有常染色体隐性视神经性神经病（Vol 68，PG 640,2019）
3. Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4-Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies [J] . Zou Xiao-Huan, Guo Xin-Xin, Su Hui-Zhen, Journal of Molecular Neuroscience: MN . 2019,第4期

机译：全外末端测序鉴定了在中国家庭中的reticulon 4-相互作用蛋白1基因中的两种新突变，具有常染色体隐性视神经性神经病
4. Technical Validation of a Next-Generation Sequencing Assay for Detecting Actionable Mutations in Patients with Gastrointestinal Cancer [C] . Simeen Malik, Sophie Ran Wang, Iam Beehuat Tan, International Molecular Medicine Tri-Conference. . 2016

机译：用于检测胃肠道癌患者可操作突变的下一代测序测定的技术验证
5. Analysis of somatic mutations identified by whole-exome sequencing in colorectal cancer metastasis [D] . Zhao, Bixiao 2016

机译：通过全外显子测序鉴定的大肠癌转移中的体细胞突变分析
6. Whole Exome Sequencing Identifies Frequent Somatic Mutations in Cell-Cell Adhesion Genes in Chinese Patients with Lung Squamous Cell Carcinoma [O] . Chenguang Li, Zhibo Gao, Fei Li, -1

机译：全外显子组测序确定中国肺鳞状细胞癌患者细胞粘附基因的频繁体细胞突变。
7. Correction to: Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4–Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies [O] . Xiao-Huan Zou, Xin-Xin Guo, Hui-Zhen Su, 2020

机译：校正至：全外壳测序在具有常染色体隐性视神经病的中国家庭中鉴定了网状蛋白4-相互作用蛋白1基因的两种新突变

Frequent mutations of genes involved in OXPHOS and optic neuropathy detected by whole exome sequencing of 257 Glaucoma Patients

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