Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference52 articles.
1. Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: Indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17
2. Northern blot normalization with a 28S rRNA olinucleotide probe
3. Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997
4. Tenascin–X deficiency is associated with Ehlers–Danlos syndrome
5. 2001. Disorders of collagen biosynthesis and structure. In: editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill. pp 5241-5285.
Cited by 15 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. Exome Sequencing Reveals a Phenotype Modifying Variant in ZNF528 in Primary Osteoporosis With a COL1A2 Deletion;Journal of Bone and Mineral Research;2020-08-26
2. PLOD2 Is Essential to Functional Activation of Integrin β1 for Invasion/Metastasis in Head and Neck Squamous Cell Carcinomas;iScience;2020-02
3. Ehlers–Danlos Syndromes;Harper's Textbook of Pediatric Dermatology;2019-11-20
4. The Ehlers-Danlos syndromes, rare types;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2017-03
5. Defects of enzymes and structural proteins;Neurocutaneous Disorders;2016
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