MOLECULAR STUDIES OF HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE MUTATIONS IN SIX AUSTRALIAN FAMILIES
Author:
Publisher
Wiley
Subject
Internal Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1445-5994.1987.tb00080.x/fullpdf
Reference22 articles.
1. A familial disorder of uric acid metabolism and central nervous system function;Lesch;Am J Med,1964
2. Hypoxanthine-guanine phosphoribosyhransferase deficiency in gout;Kelley;Ann Intern Med,1969
3. Localization of loci for HPRT and glucose-6-phosphate dehydrogenase and biochemical evidence for non-random X-chromosome expression from studies of a human X-autosome translocation;Pai;Proc Natl Acad Sci USA,1980
4. HPRT and the Lesch-Nyhan syndrome;Patel;BioEssays,1985
5. Hypoxanthine-guanine phosphoribosyhransferase deficiency. The molecular basis of the clinical syndrome;Wilson;New Engl J Med,1983
Cited by 10 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. Lesch–Nyhan syndrome;Neurocutaneous Disorders;2004-01-08
2. Hypoxanthine-guanine phosphoribosyltransferase gene analysis for Japanese patients with Lesch-Nyhan syndrome;Pediatrics International;1996-02
3. The molecular characterisation of hprtchermside and HPRTcoorparoo: two Lesch-Nyhan patients with reduced amounts of mRNA;Gene;1991-12
4. Identification of a single nucleotide substitution in the coding sequence ofin vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBrisbane);Journal of Inherited Metabolic Disease;1990-09
5. Characterization of three new deletions at the 5′ end of the HPRT structural gene;Journal of Inherited Metabolic Disease;1990-03
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