Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion
Author:
Funder
National Institutes of Health
National Institute of Environmental Health Sciences
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference21 articles.
1. Pathology of skeletal muscle in mitochondrial disorders;Bourgeois;Mitochondrion,2004
2. Crystal structure and deletion analysis show that the accessory subunit of mammalian DNA polymerase gamma, Pol gamma B, functions as a homodimer;Carrodeguas;Mol. Cell,2001
3. Defects of mitochondrial DNA replication;Copeland;J. Child. Neurol.,2014
4. Increased mitochondrial DNA content in peripheral blood lymphocytes from HIV-infected patients with lipodystrophy;Cossarizza;Antivir. Ther.,2003
5. Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options;El-Hattab;Neurotherapeutics,2013
Cited by 21 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. POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature;The Cerebellum;2023-04-22
2. Pathological and Therapeutic Advances in Parkinson’s Disease: Mitochondria in the Interplay;Journal of Alzheimer's Disease;2022-09-06
3. Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions;Molecular Genetics & Genomic Medicine;2022-03-15
4. Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion;Case Reports in Genetics;2021-11-05
5. Therapy Prospects for Mitochondrial DNA Maintenance Disorders;International Journal of Molecular Sciences;2021-06-16
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