The background puzzle: how identical mutations in the same gene lead to different disease symptoms
Author:
Affiliation:
1. Laboratory of Nematology; Wageningen University; The Netherlands
Publisher
Wiley
Subject
Cell Biology,Molecular Biology,Biochemistry
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/febs.14080/fullpdf
Reference60 articles.
1. Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases;Chen;Nat Biotechnol,2016
2. Mouse phenome research: implications of genetic background;Yoshiki;ILAR J,2006
3. What is influencing the phenotype of the common homozygous polymerase-gamma mutation p.Ala467Thr?;Neeve;Brain,2012
4. Genetic analysis of intestinal polyp development in Collaborative Cross mice carrying the Apc (Min/+) mutation;Dorman;BMC Genet,2016
5. Cystic fibrosis: a worldwide analysis of CFTR mutations-correlation with incidence data and application to screening;Bobadilla;Hum Mutat,2002
Cited by 73 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. Expanding TBCE-related phenotype—novel variant causing rigid spine, eosinophilia, neutropenia, and nocturnal hypoxemia;Journal of Applied Genetics;2024-08-17
2. Mucopolysaccharidosis Type IIIE: A Real Human Disease or a Diagnostic Pitfall?;Diagnostics;2024-08-09
3. Multiomics approach towards characterization of tumor cell plasticity and its significance in precision and personalized medicine;Cancer and Metastasis Reviews;2024-05-18
4. Nemaline Myopathy in a Hypotonic Neonate: Diagnostic Approach for Early Detection and Management;Cureus;2024-03-25
5. A novel IGHMBP2 variant and clinical diversity in Vietnamese SMARD1 and CMT2S patients;Frontiers in Pediatrics;2024-02-13
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