Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1399-0004.2001.590608.x/fullpdf
Reference31 articles.
1. Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity;Giblett;Lancet,1975
2. Purification and characterization of human erythrocyte purine nucleoside phosphorylase and its subunits;Zannis;J Biol Chem,1978
3. Human purine nucleoside phosphorylase cDNA and genomic clone characterization;Williams;Nucleic Acids Res,1984
4. Assignment of nucleoside phosphorylase to D-14 and localization of X-linked loci in man by somatic cell genetics;Ricciuti;Nature,1973
Cited by 41 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. Ataxia Telangiectasia Arising as Immunodeficiency: The Intriguing Differential Diagnosis;Journal of Clinical Medicine;2023-09-19
2. Purine Nucleoside Phosphorylase Deficient Severe Combined Immunodeficiencies: A Case Report and Systematic Review (1975–2022);Journal of Clinical Immunology;2023-06-16
3. Immunodeficiencies;Clinical Immunology;2023
4. Purine nucleoside phosphorylase deficiency induces p53-mediated intrinsic apoptosis in human induced pluripotent stem cell-derived neurons;Scientific Reports;2022-05-31
5. Partial Purine Nucleoside Phosphorylase Deficiency Helps Determine Minimal Activity Required for Immune and Neurological Development;Frontiers in Immunology;2020-06-30
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