Rothmund–Thomson Syndrome and Glomerulonephritis in a Homozygous C1q-Deficient Patient Due to a Gly164Ser C1qC Mutation
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Dermatology,Molecular Biology,Biochemistry
Reference8 articles.
1. Homozygous C1q deficiency causes glomerulonephritis associated with multiple apoptotic bodies;Botto;Nat Genet,1998
2. The crystal structure of the globular head of complement protein C1q provides a basis for its versatile recognition properties;Gaboriaud;J Biol Chem,2003
3. Mice lacking DNA topoisomerase IIIbeta develop to maturity but show a reduced mean lifespan;Kwan;Proc Natl Acad Sci USA,2001
4. Rothmund-Thomson syndrome;Larizza;Orphanet J Rare Dis,2010
5. Familial C1q deficiency associated with renal and cutaneous disease;Leyva-Cobián;Clin Exp Immunol,1981
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. Complement deficiencies;Inborn Errors of Immunity;2021
2. Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts;The Lancet Rheumatology;2020-02
3. Rothmund-thomson syndrome: A review of clinical and molecular aspects;Journal of Dermatology and Dermatologic Surgery;2020
4. Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods;BMC Bioinformatics;2017-10-12
5. Marked variability in clinical presentation and outcome of patients with C1q immunodeficiency;Journal of Autoimmunity;2015-08
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