Whole-Exome Sequencing Enables the Diagnosis of Variant-Type Xeroderma Pigmentosum
Author:
Publisher
Frontiers Media SA
Subject
Genetics (clinical),Genetics,Molecular Medicine
Reference33 articles.
1. Predicting functional effect of human missense mutations using PolyPhen-2.;Adzhubei;Curr. Protoc. Hum. Genet. Chapter,2013
2. Exome sequencing as a tool for Mendelian disease gene discovery.;Bamshad;Nat. Rev. Genet.,2011
3. A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation.;Ben Rekaya;J. Genet.,2011
4. Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: impact on molecular diagnosis.;Ben Rekaya;J. Dermatol. Sci.,2018
5. Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients.;Broughton;Proc. Natl. Acad. Sci. U.S.A.,2002
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. A new POLH mutation in a consanguineous Chinese family with xeroderma pigmentosum variant type;Clinical and Experimental Dermatology;2022-11-01
2. Recurrent squamous cell carcinoma and a novel mutation in a patient with xeroderma pigmentosum: a case report;Journal of Medical Case Reports;2022-07-28
3. Current state of knowledge of human DNA polymerase eta protein structure and disease-causing mutations;Mutation Research/Reviews in Mutation Research;2022-07
4. Current state of knowledge of human DNA polymerase eta protein structure and disease-causing mutations;MUTAT RES-REV MUTAT;2022
5. Xeroderma pigmentosum: an updated review;DRUGS CONTEXT;2022
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