Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/ng0493-323.pdf
Reference24 articles.
1. Spranger, J., Langer, L.O. & Wiedemann, H.R. Bone Dysplasias (Fischer/ Saunders, Stuttgart/Philadelphia, 1974).
2. Lee, B., Vissing, H., Ramirez, F., Rogers, D. & Rimoin, D. Identification of the molecular defect in a family with spondyloepiphysral dysplasia. Science 244, 978–980 (1989).
3. Vissing, H. et al. Glycine to serine substitution in the triple helical domain of pro-α1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism. J. Biol. Chem. 264, 18265–18267 (1989).
4. Ala-Kokko, L., Baldwin, C.T., Moskowitz, R.W. & Prockop, D.J. Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with mild chondrodysplasia. Proc. natn. Acad. Sci. U.S.A. 87, 6565–6568 (1990).
5. Tiller, G.E., Rimoin, D.L., Murray, L.W. & Cohn, D.H. Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia. Proc. natn. Acad. Sci. U.S.A. 87, 3889–3893 (1990).
Cited by 158 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. An Updated View on Temporomandibular Joint Degeneration: Insights from the Cell Subsets of Mandibular Condylar Cartilage;Stem Cells and Development;2022-08-01
2. A Novel Mutation c.3392G>T of COL2A1 Causes Spondyloepiphyseal Dysplasia Congenital by Affecting Pre-mRNA Splicing;Frontiers in Genetics;2022-04-05
3. Osseous and Musculoskeletal Disorders;Albert and Jakobiec's Principles and Practice of Ophthalmology;2022
4. A Review of the Effects of Collagen Treatment in Clinical Studies;Polymers;2021-11-09
5. Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III–related leukodystrophy and Feingold syndrome;Molecular Case Studies;2021-11-04
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