A common FGFR3 mutation functions as a diagnostic marker for achondroplasia-group disorders in the Japanese population
Author:
Publisher
Elsevier BV
Subject
Orthopedics and Sports Medicine,Surgery
Link
http://www.springerlink.com/index/pdf/10.1007/BF02348804
Reference19 articles.
1. Achondroplasia is defined by recurrent G380R mutations of FGFR3;Bellus;Am J Hum Genet,1995
2. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia;Bellus;Nat Genet,1995
3. A new estimate of the achondroplasia mutation rate;Gardner;Clin Genet,1977
4. Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients;Ikegawa;Hum Genet,1995
5. Achondroplasia;Langer;Am J Roentgenol,1967
Cited by 5 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. The Radiograph of the Pelvis as a Window to Skeletal Dysplasias;The Indian Journal of Pediatrics;2016-01-29
2. Ossification of the Thoracic Ligamentum Flavum in an Achondroplastic Patient: A Case Report;Journal of Orthopaedic Surgery;2008-12
3. Bifocal Tibial Corrective Osteotomy With Lengthening in Achondroplasia;Journal of Pediatric Orthopaedics;2006-11
4. Skeletal development of achondroplasia: Analysis of genotyped patients;Pediatrics International;2001-08-22
5. Lengthening of the Lower Limbs in Patients With Achondroplasia and Hypochondroplasia;Clinical Orthopaedics and Related Research;1997-11
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