Pseudogene-derivedIKBKGgene mutations in incontinentia pigmenti
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2009.01232.x/fullpdf
Reference11 articles.
1. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.;Smahi;Nature,2000
2. Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes;Aradhya;Hum Mol Genet,2001
3. A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations;Aradhya;Hum Mol Genet,2001
4. Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma);Aradhya;Am J Hum Genet,2001
5. Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation;Fusco;Hum Mol Genet,2004
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. Recurrence of vesicular stage lesions in an adult female patient with incontinentia pigmenti‐including molecular analysis;Australasian Journal of Dermatology;2022-04-19
2. Hypomorphic mutation of IKBKG in a male patient with incontinentia pigmenti;The Journal of Dermatology;2020-04
3. Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiency;Journal of Microbiology, Immunology and Infection;2019-06
4. Newborn Screening for Severe Combined Immunodeficiency in Taiwan;International Journal of Neonatal Screening;2017-06-23
5. A Nonsense Mutation in the IKBKG Gene in Mares with Incontinentia Pigmenti;PLoS ONE;2013-12-04
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