Two families with novel missense mutations in COL4A1: When diagnosis can be missed
Author:
Funder
European Leukodystrophies Association
Publisher
Elsevier BV
Subject
Clinical Neurology,Neurology
Reference29 articles.
1. Assembly, heterogeneity, and breaching of the basement membranes;Glentis;Cell Adh Migr,2014
2. COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets;Kuo;Hum Mol Genet,2012
3. Mammalian collagen IV;Khoshnoodi;Microsc Res Tech,2008
4. The molecular basis of Goodpasture and Alport syndromes: beacons for the discovery of the collagen IV family;Hudson;J Am Soc Nephrol,2004
5. Mutations in the codon for a conserved arginine-1563 in the COL4A5 collagen gene in Alport syndrome;Zhou;Kidney Int,1993
Cited by 24 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. Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2024-07-17
2. Missense Variants in COL4A1/2 Are Associated with Cerebral Aneurysms: A Case Report and Literature Review;Neurology International;2024-02-01
3. Migraine;Neurogenetics for the Practitioner;2024
4. Elevated TGFβ signaling contributes to ocular anterior segment dysgenesis in Col4a1 mutant mice;Matrix Biology;2022-06
5. Prenatal Diagnosis of COL4A1 Mutations in Eight Cases: Further Delineation of the Neurohistopathological Phenotype;Pediatric and Developmental Pathology;2022-04-05
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