Detection of the thre common mutations of adeninephosphoribosyltransferase deficiency among Japanese
Author:
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference13 articles.
1. Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadenine lithiasis;Simmonds,1989
2. Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiency;Kamatani;Hum Genet,1987
3. Severe impairment in adenine metabolism with a partial deficiency of phosphoribosyltransferase;Kamatani;Metabolism,1985
4. Identification of a common nonsense mutation in Japanese patients with type I adenine phosphoribosyltransferase deficiency;Sahota;Nucleic Acids Res,1990
5. Human adenine phosphorihosyltransferase deficiency: demonstration of a single mutant allele common to the Japanese;Hidaka;J Clin Invest,1988
Cited by 5 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. An APRT mutation is strongly associated with and likely causative for 2,8-dihydroxyadenine urolithiasis in dogs;Molecular Genetics and Metabolism;2014-03
2. Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency;Pediatric Nephrology;2010-01-26
3. Transitional Cell Carcinoma of the Renal Pelvis with Vena Caval Tumor Thrombus;International Journal of Urology;1997-05
4. Family Study of 2,8-Dihydroxyadenine Stone Formation: Report of Two Cases of a Compound Heterozygote for Adenine Phosphoribosyltransferase Deficiency (APRT*J/APRT*QO);International Journal of Urology;1997-05
5. A role for certain mouseAprt sequences in resistance to toxic adenine analogs;Somatic Cell and Molecular Genetics;1997-01
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