An unmasked mutation ofEIF2B2due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference27 articles.
1. Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects;Cingoz;Am J Med Genet Part A,2011
2. Deletions that reveal recessive genes;Coman;Eur J Hum Genet,2007
3. Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome;Flipsen-ten Berg;Eur J Hum Genet,2007
4. A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation;Fogli;Neurology,2002a
5. Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients;Fogli;Eur J Hum Genet,2004
Cited by 10 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. Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients;Journal of Neurology;2023-05-12
2. Gitelman syndrome caused by a novel hemiallelic missense mutation in SLC12A3 revealed by 16q12.2q21 microdeletion;Human Genome Variation;2020-05-27
3. Seizure as the Early and Main Manifestation of Infantile Vanishing White Matter Disease: A Case Report;Iranian Journal of Pediatrics;2018-03-10
4. The spectrum of adult-onset heritable white-matter disorders;Neurogenetics, Part II;2018
5. Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease;Brain and Development;2015-11
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