A Novel EXT1 Mutation Identified in a Family with Multiple Osteochondromas
Author:
Affiliation:
1. Bengbu Medical College, Bengbu, China.
2. Zhejiang Provincial People's Hospital, People's Hospital of Hangzhou Medical College, Hangzhou, China.
Publisher
Mary Ann Liebert Inc
Subject
Genetics(clinical),General Medicine
Link
https://www.liebertpub.com/doi/pdf/10.1089/gtmb.2018.0072
Reference23 articles.
1. Evaluation of the Anatomic Burden of Patients with Hereditary Multiple Exostoses
2. Glycosaminoglycans in the blood of hereditary multiple exostoses patients: Half reduction of heparan sulfate to chondroitin sulfate ratio and the possible diagnostic application
3. Novel EXT1 mutation identified in a pedigree with hereditary multiple exostoses
4. 20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis
5. Variation in torus mandibularis prevalence in Norway A statistical analysis using logistic regression
Cited by 2 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. Identification of Two Novel Frameshift Mutations in Exostosin 1 in Two Families with Multiple Osteochondromas;Molecular Syndromology;2021
2. Exostosin1 as a novel prognostic and predictive biomarker for squamous cell lung carcinoma: A study based on bioinformatics analysis;Cancer Medicine;2020-12-13
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