The low frequency of recessive disease: insights from ENU mutagenesis, severity of disease phenotype, GWAS associations, and demography: an analytical review
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s13353-014-0203-3.pdf
Reference46 articles.
1. Acevedo-Arozena A, Wells S, Potter P, Kelly M, Cox RD, Brown SD (2008) ENU mutagenesis, a way forward to understand gene function. Annu Rev Genomics Hum Genet 9:49–69
2. Allan W (1939) Relation of hereditary pattern to clinical severity as illustrated by peroneal atrophy. Arch Intern Med 63:1123–1131
3. Bittles AH, Black ML (2010) Evolution in health and medicine Sackler colloquium: Consanguinity, human evolution, and complex diseases. Proc Natl Acad Sci U S A 107(Suppl 1):1779–1786
4. Bittles AH, Neel JV (1994) The costs of human inbreeding and their implications for variations at the DNA level. Nat Genet 8:117–121
5. Blekhman R, Man O, Herrmann L, et al (2008) Natural selection on genes that underlie human disease susceptibility. Curr Biol 18:883–889
Cited by 8 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. Linkage studies, cytogenetics, and the discovery that t-haplotypes consist of a series of inversions—an over-the-Century Project;Twentieth Century Mouse Genetics;2022
2. Epigenome association study for DNA methylation biomarkers in buccal and monocyte cells for female rheumatoid arthritis;Scientific Reports;2021-12
3. NEW STRAIN OF MUTANT MICE CHARACTERIZED BY SELECTIVE RESISTANCE TO ONE OF TWO SEPTIC SHOCK PROTOCOLS;Russian Journal of Immunology;2020-01-15
4. Do GWAS and studies of heterozygotes for NPC1 and/or NPC2 explain why NPC disease cases are so rare?;Journal of Applied Genetics;2018-09-13
5. Genetic disease in India and the West compared: provisional analysis of population dynamics;Journal of Genetics;2018-01-11
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