Molecular Analysis of Two Enzyme Genes,HPRT1andPRPS1,Causing X-Linked Inborn Errors of Purine Metabolism
Author:
Publisher
Informa UK Limited
Subject
Genetics,Molecular Medicine,Biochemistry,General Medicine
Link
http://www.tandfonline.com/doi/pdf/10.1080/15257771003738691
Reference10 articles.
1. Molecular analysis of HPRT deficiencies: An update of the spectrum of Asian mutations with novel mutations
2. Molecular Analysis of Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) Deficiencies: Novel Mutations and the Spectrum of Japanese Mutations
3. Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene.
4. The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.
5. Mutations in PRPS1, Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical for Nucleotide Biosynthesis, Cause Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy (CMTX5)
Cited by 4 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. Novel Hypoxanthine Guanine Phosphoribosyltransferase Gene Mutations in Saudi Arabian Hyperuricemia Patients;BioMed Research International;2014
2. Molecular Analysis of X-Linked Inborn Errors of Purine Metabolism:HPRT1andPRPS1Mutations;Nucleosides, Nucleotides and Nucleic Acids;2011-12
3. Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) Mutations in the Asian Population;Nucleosides, Nucleotides and Nucleic Acids;2011-12
4. Anticancer activity and cDNA microarray studies of a (RS)-1,2,3,5-tetrahydro-4,1-benzoxazepine-3-yl]-6-chloro-9H-purine, and an acyclic (RS)-O,N-acetalic 6-chloro-7H-purine;European Journal of Medicinal Chemistry;2011-09
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