Lipoid congenital adrenal hyperplasia due to steroid acute regulatory protein (STAR) variants in Three Chinese patients-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Lipoid congenital adrenal hyperplasia due to steroid acute regulatory protein (STAR) variants in Three Chinese patients

Published:2020-06 Issue: Volume:200 Page:105635
ISSN:0960-0760
Container-title:The Journal of Steroid Biochemistry and Molecular Biology
language:en
Short-container-title:The Journal of Steroid Biochemistry and Molecular Biology

Author:

Chen Hong,Zhang Qianru,Chen Ruimin,Yuan Xin,Lin Xiangquan,Yang Xiaohong,Zhang Ying

Funder

Medical Innovation Project of Fujian Provincial Health Planning Commission

Clinical Specialty Discipline Construction Program

Key Clinical Special Discipline Construction Program

The Basic and Clinical research of Rare Disease

Publisher

Elsevier BV

Subject

Cell Biology,Clinical Biochemistry,Endocrinology,Molecular Biology,Molecular Medicine,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference27 articles.

1. High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia;Kim;Eur. J. Endocrinol.,2011

2. A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia;Flück;J. Clin. Endocrinol. Metab.,2005

3. International Congenital Lipoid Adrenal Hyperplasia Consortium. The pathophysiology and genetics of congenital lipoid adrenal hyperplasia;Bose;N. Engl. J. Med.,1996

4. Invitae Clinical Genomics Group, Topper S. Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria;Nykamp;Genet. Med.,2017

5. Comparative structural analysis of lipid binding START domains;Thorsell;PLoS One,2011

Cited by 3 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. Melatonin administration during the first half of pregnancy improves the reproductive performance of rabbits: Emphasis on ovarian and placental functions;Theriogenology;2023-07

2. A narrative review: an update on primary adrenal insufficiency (PAI) in pediatric population;Pediatric Medicine;2022-01

3. Clinical Features of 57 Patients with Lipoid Congenital Adrenal Hyperplasia: Criteria for Nonclassic Form Revisited;The Journal of Clinical Endocrinology & Metabolism;2020-08-24

同舟云学术

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