Reevaluation of the CMT1A duplication frequency in Greek Charcot-Marie-Tooth type 1 patients
Author:
Affiliation:
1. Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital; University of Athens Medical School; Athens Greece
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference5 articles.
1. Mutational analysis of PMP22, GJB1 and MPZ in Greek Charcot-Marie-Tooth type 1 neuropathy patients;Karadima;Clin Genet,2011
2. Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies;Szigeti;Neuromolecular Med,2006
3. Molecular diagnosis of PMP22 gene duplications and deletions: comparison of different methods;Stangler Herodez;J Int Med Res,2009
4. Identification of deletion and duplication genotypes of the PMP22 gene using PCR-RFLP, competitive multiplex PCR, and multiplex ligation-dependent probe amplification: a comparison;Hung;Electrophoresis,2008
5. Molecular mechanisms for CMT1A duplication and HNPP deletion;Boerkoel;Ann N Y Acad Sci,1999
Cited by 1 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. Mutational screening of Greek patients with axonal Charcot‐Marie‐Tooth disease using targeted next‐generation sequencing: Clinical and molecular spectrum delineation;Journal of the Peripheral Nervous System;2023-10-05
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