Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1
Author:
Funder
Universidad de Costa Rica
Ministerio de Ciencia Tecnología y Telecomunicaciones
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference53 articles.
1. Myotonic Dystrophy;PS Harper,2001
2. Myotonic Dystrophy;PS Harper,1989
3. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member;JD Brook;Cell,1992
4. An unstable triplet repeat in a gene related to myotonic muscular dystrophy;YH Fu;Science,1992
5. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene;M Mahadevan;Science,1992
Cited by 6 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. Individual-specific levels of CTG•CAG somatic instability are shared across multiple tissues in myotonic dystrophy type 1;Human Molecular Genetics;2022-09-13
2. Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation;Scientific Reports;2022-06-21
3. Molecular-genetic studies of inherited myotonic conditions in Costa Rica;POBLAC SALUD MESOAM;2022
4. Myotonic dystrophy type 1 (DM1) clinical subtypes and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent;Human Molecular Genetics;2021-08-25
5. Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset;Human Molecular Genetics;2020-06-30
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