Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-012-9465-2
Reference28 articles.
1. Bergamin CS, Rolim LC, Dib SA, Moises RS (2008) Unusual occurrence of intestinal pseudo obstruction in a patient with maternally inherited diabetes and deafness (MIDD) and favorable outcome with coenzyme Q10. Arquivos brasileiros de endocrinol e metabol 52:1345–1349
2. Chinnery PF, Turnbull DM (2001) Epidemiology and treatment of mitochondrial disorders. Am j med genet 106:94–101
3. Chinnery PF, Howell N, Lightowlers RN, Turnbull DM (1997) Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain 120(Pt 10):1713–1721
4. Chinnery PF, Johnson MA, Wardell TM et al (2000) The epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol 48:188–193
5. Cree LM, Samuels DC, Chinnery PF (2009) The inheritance of pathogenic mitochondrial DNA mutations. Biochim Biophys Acta 1792:1097–1102
Cited by 123 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. Analysis of Mutational Burden of Mitochondrial Genome in Cells of Different Human Organs and Tissues;Current Medicinal Chemistry;2024-08-23
2. Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A>G Mutation in Korea (Diabetes Metab J 2024;48:482-6);Diabetes & Metabolism Journal;2024-07-31
3. Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A>G Mutation in Korea;Diabetes & Metabolism Journal;2024-05-31
4. T cell activation contributes to purifying selection against the MELAS‐associated m.3243A>G pathogenic variant in blood;Journal of Inherited Metabolic Disease;2024-03-18
5. The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity;Journal of Neuromuscular Diseases;2024-01-02
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