Analysis of dinucleotide repeat loci of dystrophin gene for carrier detection, germline mosaicism and de novo mutations in Duchenne muscular dystrophy
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1399-0004.2000.580312.x/fullpdf
Reference13 articles.
1. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals;Koenig;Cell,1987
2. Molecular and phenotypic analysis of patients with deletion within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene;Gillard;Am J Hum Genet,1989
3. Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene;Abbs;J Med Genet,1992
4. Quantitative Southern blot analysis in the dystrophin gene of Japanese patients with Duchenne or Becker muscular dystrophy: a high frequency of duplications;Hiraishi;J Med Genet,1992
Cited by 9 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. A retrospective cohort study and review of the literature about germline mosaicism in Duchenne/Becker muscular dystrophy prenatal counseling: How to estimate the recurrence risk in clinical settings?;Journal of Genetic Counseling;2024-06-19
2. Human Genetics and Clinical Aspects of Neurodevelopmental Disorders;The Genetics of Neurodevelopmental Disorders;2015-07-24
3. Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm;Muscle & Nerve;2013-06-26
4. Prenatal diagnosis of duchenne/becker muscular dystrophy by short tandem repeat segregation analysis in argentine families;Muscle & Nerve;2011-02-08
5. A Larger Spectrum of Intragenic Short Tandem Repeats Improves Linkage Analysis and Localization of Intragenic Recombination Detection in the Dystrophin Gene;The Journal of Molecular Diagnostics;2007-02
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