Two novel cosegregating mutations in tRNAMet and COX III, in a patient with exercise intolerance and autoimmune polyendocrinopathy
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Molecular Medicine
Reference60 articles.
1. Sequence and organization of the human mitochondrial genome;Anderson;Nature,1981
2. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA;Andrews;Nat. Genet.,1999
3. A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNALys gene associated with myoclonus epilepsy with ragged-red fibers;Arenas;Neurology,1999
4. Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach;Bai;Clin. Chem.,2004
5. Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes;Bidooki;Am. J. Hum. Genet.,1997
Cited by 18 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. Molecular pathways in mitochondrial disorders due to a defective mitochondrial protein synthesis;Frontiers in Cell and Developmental Biology;2024-05-24
2. A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity;Neuromuscular Disorders;2021-11
3. A novel nonsense variant in MT-CO3 causes MELAS syndrome;Neuromuscular Disorders;2021-06
4. Translation initiation in mammalian mitochondria- a prokaryotic perspective;RNA Biology;2019-11-14
5. MELAS syndrome with m.4450 G > A mutation in mitochondrial tRNAMet gene;Brain and Development;2019-05
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