Mutation Prevalence among 51 Unrelated Spanish Patients with Gaucher Disease: Identification of 11 Novel Mutations
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Hematology,Molecular Biology,Molecular Medicine
Reference39 articles.
1. Demonstration of a deficiency of glucocerebrosidase-cleaving enzyme in Gaucher's disease;Brady;J. Clin. Invest.,1966
2. Gaucher disease;Beutler,1995
3. Assignment of the gene coding for human β-glucocerebrosidase to the region q21–q31 of chromosome 1 using monoclonal antibodies;Barnevejaard;Hum. Genet.,1983
4. The human glucocerebrosidase gene and pseudogene: Structure and evolution;Horowitz;Genomics,1998
5. Gaucher's disease: Molecular, genetic and enzymological aspects;Grabowski,1997
Cited by 33 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. Diagnosis and management of patients with Gaucher disease: an Egyptian expert opinion;Egyptian Journal of Medical Human Genetics;2024-07-31
2. Gaucher Disease Diagnosed During Adolescence;Pediatric Academic Case Reports;2023-01-01
3. Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1;Orphanet Journal of Rare Diseases;2022-12-21
4. Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease;Molecular Genetics and Metabolism Reports;2021-12
5. Gaucher Disease: Identification and Novel Variants in Mexican and Spanish Patients;Archives of Medical Research;2021-10
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