Absence of apparent disease causing mutations inCOL5A3in 13 patients with hypermobility Ehlers-Danlos syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32586/fullpdf
Reference15 articles.
1. Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK);Beighton;Am J Med Genet,1998
2. Collagen type I and type V are present in the same fibril in the avian corneal stroma;Birk;J Cell Biol,1988
3. Collagen fibrillogenesis in vitro: Interaction of types I and V collagen regulates fibril diameter;Birk;J Cell Sci,1990
4. Three new alpha-chains of collagen from a non-basement membrane source;Brown;Biochem Biophys Res Commun,1978
5. Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia;Chan;J Biol Chem,1991
Cited by 7 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. Whole-exome sequencing of calcitonin-producing pancreatic neuroendocrine neoplasms indicates a unique molecular signature;Frontiers in Oncology;2023-09-12
2. Outcomes and Complications in Patients With Hypermobile Ehlers–Danlos Syndrome Who Have Undergone Laser In Situ Keratomileusis Surgery;Cornea;2022-03-30
3. Hypermobile Ehlers–Danlos syndrome: A review and a critical appraisal of published genetic research to date;Clinical Genetics;2021-07-14
4. Ehlers–Danlos Syndromes;Harper's Textbook of Pediatric Dermatology;2019-11-20
5. Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders;Human Genetics;2016-11-14
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