High penetrance of sequencing errors and interpretative shortcomings in mtDNA sequence analysis of LHON patients
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry,Biophysics
Reference50 articles.
1. Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees;Man;J. Med. Genet.,2004
2. Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear–mitochondrial interaction;Carelli;Trends Genet.,2003
3. Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder;Hudson;Am. J. Hum. Genet.,2005
4. The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation;Mayorov;Ann. Neurol.,2005
5. Sequence variation in mitochondrial complex I genes: mutation or polymorphism?;Mitchell;J. Med. Genet.,2006
Cited by 41 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. Sequencing errors in Native American mitogenomes: Impact on clade definitions, haplogroup assignation, and beyond;Mitochondrion;2023-05
2. Co-occurrence of m.15992A>G and m.15077G>A Is Associated With a High Penetrance of Maternally Inherited Hypertension in a Chinese Pedigree;American Journal of Hypertension;2021-08-04
3. Deep sequencing discovery of causal mtDNA mutations in a patient with unspecific neurological disease;Mitochondrion;2019-05
4. Next generation database search algorithm for forensic mitogenome analyses;Forensic Science International: Genetics;2018-11
5. Leber's Hereditary Optic Neuropathy: Novel Views and Persisting Challenges;CNS & Neurological Disorders - Drug Targets;2018-01-19
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