Clinical heterogeneity in two pedigrees with the 3243 bp tRNALeu(UUR)mutation of mitochondrial DNA
Author:
Publisher
Wiley
Subject
Clinical Neurology,Neurology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1600-0404.1995.tb05845.x/fullpdf
Reference12 articles.
1. A mutation in the tRNAL-eu(uuR) gene associated with the MELAS subgroup in mitochondrial encephalomyopathies.;Goto;Nature,1990
2. MELAS: clinical features, biochemistry and molecular genetics.;Ciafaloni;Ann Neurol,1992
3. Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples.;Hammans;Lancet,1991
4. Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA.;Moraes;Neuromusc Disord,1993
5. Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA.;Reardon;Lancet,1992
Cited by 15 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. Genomics and Genetics in the Biology of Adaptation to Exercise;Comprehensive Physiology;2011-07
2. Mitochondrial DNA Sequence Variation and Performance;Genetic and Molecular Aspects of Sport Performance;2010-11-25
3. Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS;American Journal of Medical Genetics Part A;2009-02-27
4. MELAS syndrome associated with a tandem duplication in the D-loop of mitochondrial DNA;Acta Neurologica Scandinavica;2009-01-29
5. The Human Gene Map for Performance and Health-Related Fitness Phenotypes;Medicine & Science in Sports & Exercise;2009-01
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