Novel CYP17A1 mutation in a Japanese patient with combined 17α-hydroxylase/17,20-lyase deficiency
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Reference20 articles.
1. Expression of bovine 17α-hydroxylase cytochrome P-450 cDNA in nonsteroidogenic (COS 1) cells;Zuber;Science,1986
2. Localization of the human CYP17 gene (cytochrome P45017α) to 10q24.3 by fluorescence in situ hybridization and simultaneous chromosome banding;Fan;Genomics,1992
3. Structural characterization of normal and mutant human steroid 17α-hydroxylase genes: molecular basis of one example of combined 17α-hydroxylase/17,20 lyase deficiency;Kagimoto;Mol Endocrinol,1988
4. 17α-Hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition;Yanase;Endocr Rev,1991
5. 17α-Hydroxylase/17,20-lyase defects;Yanase;J Steroid Biochem Mol Biol,1995
Cited by 17 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. Clinical, biochemical and genetic characteristics of children with congenital adrenal hyperplasia due to 17α-hydroxylase deficiency;Journal of Pediatric Endocrinology and Metabolism;2020-07-11
2. Functional Identification of Compound Heterozygous Mutations in the CYP17A1 Gene Resulting in Combined 17α-Hydroxylase/17,20-Lyase Deficiency;Endocrinology and Metabolism;2018
3. Association of CYP17A1 Genetic Polymorphisms and Susceptibility to Essential Hypertension in the Southwest Han Chinese Population;Medical Science Monitor;2017-05-24
4. Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development;Molecular and Cellular Endocrinology;2017-03
5. 17-α-Hydroxylase Deficiency Due to P.R362C Mutation in two Sisters From India;AACE Clinical Case Reports;2017
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