Genotype–phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg2009242.pdf
Reference19 articles.
1. Rauch F, Glorieux FH : Osteogenesis imperfecta. Lancet 2004; 363: 1377–1385.
2. Sillence DO, Senn A, Danks DM : Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979; 16: 101–116.
3. Dalgleish R : The human type I collagen mutation database. Nucleic Acids Res 1997; 25: 181–187.
4. Dalgleish R : The human collagen mutation database 1998. Nucleic Acids Res 1998; 26: 253–255.
5. Marini JC, Forlino A, Cabral WA et al: Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat 2007; 28: 209–221.
Cited by 83 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. OSTEOGENEZİS İMPERFEKTALI ÇOCUKLARDA PAMİDRONAT TEDAVİSİNİN BOY, KEMİK MİNERAL YOĞUNLUĞU, KIRIK SIKLIĞI VE KABA MOTOR BECERİLERE ETKİSİ;Kırıkkale Üniversitesi Tıp Fakültesi Dergisi;2023-08-31
2. Cranio‐cervical abnormalities in moderate‐to‐severe osteogenesis imperfecta – Genotypic and phenotypic determinants;Orthodontics & Craniofacial Research;2023-08-29
3. Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort;Bone;2023-04
4. Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta;Journal of Dental Research;2023-03-23
5. The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review;Orphanet Journal of Rare Diseases;2023-02-22
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