The Ehlers-Danlos syndrome, a disorder with many faces
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2012.01858.x/fullpdf
Reference56 articles.
1. Collagens, modifying enzymes and their mutations in humans, flies and worms.;Myllyharju;Trends Genet,2004
2. Ehlers-Danlos syndromes: revised nosology, Villefranche, Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).;Beighton;Am J Med Genet,1998
3. Focus on molecules: collagens V and XI.;Smith;Exp Eye Res
4. Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly.;Andrikopoulos;Nat Genet,1995
5. A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito.;Toriello;Nat Genet,1996
Cited by 292 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. Gastrointestinal manifestations seen in pediatric patients diagnosed with small fiber neuropathy;Journal of Pediatric Gastroenterology and Nutrition;2024-01-23
2. Characterizing a new clinical phenotype: the co-existence of cerebral venous outflow and connective tissue disorders;Frontiers in Neurology;2024-01-10
3. Type I collagen;Biochemistry of Collagens, Laminins and Elastin;2024
4. A Case of Repeated Injuries Leading to a Diagnosis of Classical Ehlers-Danlos Syndrome;International Journal of Surgical Wound Care;2023-12-01
5. Intracranial Aneurysms and Genetics: An Extensive Overview of Genomic Variations, Underlying Molecular Dynamics, Inflammatory Indicators, and Forward-Looking Insights;Brain Sciences;2023-10-12
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