Mutations causing gaucher disease
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference65 articles.
1. Assignment of the gene coding for human β-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies
2. (1989) Glucosylceramide lipodoses: Gaucher disease. In: (eds): The Metabolic Basis of Inherited Diseases. New York: McGraw-Hill, pp 1677-1699.
3. Mechanism of activation of glucocerebrosidase by CO-β-glucosidase (glucosidase activator protein)
4. Gaucher's Disease
Cited by 133 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. Engineering Synthetic and Recombinant Human Lysosomal b-Glucocerebrosidase for Enzyme Replacement Therapy for Gaucher Disease;2024-07-19
2. Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-;Journal of Human Genetics;2024-07-18
3. Base Editors-Mediated Gene Therapy in Hematopoietic Stem Cells for Hematologic Diseases;Stem Cell Reviews and Reports;2024-04-22
4. Gaucher Disease: A Glance from a Medicinal Chemistry Perspective;ChemMedChem;2024-03-08
5. Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease;Cell Structure and Function;2024
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