Molecular pathology of 21-hydroxylase deficiency
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF00711358
Reference27 articles.
1. Bristow J, Gitelman SE, Tee MK, Steals B, Miller WL (1993) Abundant adrenal-specific transcription of the human P450c21A ?pseudogene?.J Biol Chem 268: 12919?12924.
2. Collier S, Sinnott PJ, Dyer PA, Price DA, Harris R, Strachan T (1989) Pulsed field gel electrophoresis identifies a high degree of variability in the number of tandem 21-hydroxylase and complement C4 repeats in 21-hydroxylase deficiency haplotypes.EMBO J 8: 1393?1402.
3. Collier S, Tassabehji M, Strachan T (1992) A method for specific amplification and PCR sequencing of individual members of multigene families: application to the study of steroid 21-hydroxylase deficiency.PCR Methods Appl 1: 181?186.
4. Collier PS, Tassabehji M, Sinnott PJ, Strachan T (1993) Ade novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome.Nature Genet 3: 260?264.
5. Gitelman SE, Bristow J, Miller WL (1992) Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus.Mol Cell Biol 12: 2124?2134.
Cited by 19 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. Genetic profiling of CAH Egyptian children: rapid guide to clinical interpretation of common mutations;Journal of Endocrinological Investigation;2020-05-01
2. Molecular diagnosis of Chinese patients with 21-hydroxylase deficiency and analysis of genotype–phenotype correlations;Journal of International Medical Research;2017-02-02
3. Intron 2 Splice Mutation at CYP21 Gene in Patients with Congenital Adrenal Hyperplasia in the Republic of Macedonia;Balkan Journal of Medical Genetics;2010-01-01
4. Mutation distribution and CYP21/C4 locus variability in Brazilian families with the classical form of the 21-hydroxylase deficiency;Acta Paediatrica;2007-01-02
5. Gene Conversion in Health and Disease;eLS;2006-07-15
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