The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation
Author:
Affiliation:
1. Department of Pediatrics, Pusan National University Children's Hospital, Yangsan, Korea.
2. Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea.
Funder
Pusan National University Yangsan Hospital
Publisher
Korean Pediatric Society
Subject
Pediatrics,Pediatrics, Perinatology and Child Health
Link
https://synapse.koreamed.org/pdf/10.3345/kjp.2017.60.12.408
Reference13 articles.
1. The expanding clinical spectrum of mitochondrial diseases
2. The tRNA genes punctuate the reading of genetic information in human mitochondrial DNA
3. Identification of initiation sites for heavy-strand and light-strand transcription in human mitochondrial DNA.
4. Genetic analysis of the principal genes related to prostate cancer: A review
5. ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy
Cited by 6 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy;Life;2023-02-04
2. ELAC2/RNaseZ-linked cardiac hypertrophy in Drosophila melanogaster;Disease Models & Mechanisms;2021-08-01
3. Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system;Molecular Biology Reports;2020-09
4. Nuclear genetic disorders of mitochondrial DNA gene expression;The Human Mitochondrial Genome;2020
5. Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing;Human Mutation;2019-06-18
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3