Gaucher disease: frequency of the N370S mutation in the Greek population
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2010.01381.x/fullpdf
Reference13 articles.
1. Mutations in Jewish patients with Gaucher disease;Beutler;Blood,1992
2. Type I Gaucher disease: molecular, biochemical and clinical characterization of patients from Northern Portugal;Amaral;Biochem Med Metab Biol,1993
3. Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation in Spain;Chabas;J Inherit Metab Dis,1996
4. Glucocerebrosidase genotype of Gaucher patients in The Netherlands limitations in prognostic value;Boot;Hum Mutat,1997
5. Gaucher disease: gene frequencies in the Ashkenazi Jewish population;Beutler;Am J Hum Genet,1993
Cited by 6 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. Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece;Molecular Genetics and Metabolism Reports;2020-09
2. A comparative computational approach toward pharmacological chaperones (NN-DNJ and ambroxol) on N370S and L444P mutations causing Gaucher's disease;Molecular Chaperones in Human Disorders;2019
3. Gaucher disease and β-thalassemia: A rare coinheritance;Blood Cells, Molecules, and Diseases;2017-06
4. Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula;Orphanet Journal of Rare Diseases;2012
5. Gaucher disease: a pyrosequencing frequency analysis of the N370S and L444P mutations in the Spanish population;Clinical Genetics;2011-12-28
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