Two new point mutations of the SRY gene identified in two Italian 46,XY females with gonadal dysgenesis
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1399-0004.2003.00125.x/fullpdf
Reference14 articles.
1. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif;Sinclair;Nature,1990
2. The human SRY transcript;Clépet;Hum Mol Genet,1993
3. Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators;Wilson;Curr Opin Genet Dev,2002
4. Two independent nuclear localization signals are present in the DNA-binding high-mobility group domains of SRY and SOX9;Südbeck;J Biol Chem,1997
5. Male pseudohermaphroditism: an hitherto undescribed form;Swyer;Br Med J,1955
Cited by 15 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. Generation and mutational analysis of a transgenic mouse model of human SRY;Human Mutation;2021-12-28
2. Generation and mutational analysis of a transgenic mouse model of human SRY;2021-03-04
3. A missense mutation (c.226C>A) in HMG box SRY gene affects nNLS function in 46,XY sex reversal female;Andrologia;2021-02-11
4. Nonneoplastic Diseases of the Testis;Urologic Surgical Pathology;2020
5. Novel pathogenic mutations in disorders of sex development associated genes cause 46,XY complete gonadal dysgenesis;Gene;2019-11
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