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Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report

机译：五个中国家庭全外膜测序鉴定的Leigh综合征中的新型ECHS1突变：案例报告

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摘要

Summary of general information, clinical features, brain magnetic resonance imaging and biochemical examinations of five patients

机译：一般信息概述，临床特征，脑磁共振成像和五名患者的生化检查

著录项

期刊名称 BMC Medical Genetics
作者
Dan Sun; Zhimei Liu; Yongchu Liu; Miaojuan Wu; Fang Fang; Xianbo Deng; Zhisheng Liu; Liang Song; Kei Murayama; Chunhua Zhang; Yuanyuan Zhu;
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作者单位

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年(卷),期 2020(-1),-1
年度 2020
页码 -1
总页数 12
原文格式 PDF
正文语种
中图分类遗传学;
关键词

机译：Leigh综合征;

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专利

1. Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report [J] . Dan Sun, Zhimei Liu, Yongchu Liu, BMC Medical Genetics . 2020,第1期

机译：五个中国家庭全外膜测序鉴定的Leigh综合征中的新型ECHS1突变：案例报告
2. Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome [J] . Tetreault Martine, Fahiminiya Somayyeh, Antonicka Hana, Human Genetics . 2015,第9期

机译：全外显子测序可识别Leigh综合征中的新ECHS1突变
3. Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss [J] . Guangxian Yang, Yi Yin, Zhiping Tan, BMC Medical Genomics . 2021,第1期

机译：全面测序鉴定了Sall1的新型杂合突变和中国家庭PTPRQ的新纯合突变，与城镇 - 布洛克斯综合征和听力损失
4. A Bioinformatics Procedure to Identify and Annotate Somatic Mutations in Whole-Exome Sequencing Data [C] . Roberta Spinelli, Rocco Piazza, Alessandra Pirola, International meeting on computational intelligence methods for bioinformatics and biostatistics . 2012

机译：在整个外显子组测序数据中识别和注释体细胞突变的生物信息学程序
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 novel mutations in genes responsible for retinitis pigmentosa in 2 nonconsanguineous Chinese families [O] . Yan-Shan Hu, Hui Song, Yin Li, 2019

机译：全外显子测序确定了两个非中国血缘家庭的色素性视网膜炎基因的新突变
7. Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss [O] . Guangxian Yang, Yi Yin, Zhiping Tan, 2021

机译：全末端测序鉴定了Sall1的新型杂合突变和中国家庭中PTPRQ的新纯合突变，与城镇 - 布洛克斯综合征和听力损失

Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report

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