Phenotypic differences of mutation‐negative cases in Gitelman syndrome clinically diagnosed in adulthood
Author:
Affiliation:
1. Department of Nephrology Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University Bunkyo Tokyo Japan
Funder
Japan Agency for Medical Research and Development
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24159
Reference36 articles.
1. A map of human genome variation from population-scale sequencing
2. Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2
3. Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
4. Primary Sjögren's syndrome associated with Gitelman's syndrome presenting with muscular paralysis
5. Dietary salt regulates the phosphorylation of OSR1/SPAK kinases and the sodium chloride cotransporter through aldosterone
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. Gitelman syndrome and in vitro fertilization-embryo transfer: advancing preconception care in nephrology;CEN Case Reports;2024-04-17
2. Pseudo-Gitelman Syndrome Presenting with Hypokalemic Metabolic Alkalosis and Hypocalciuria;Electrolytes & Blood Pressure;2023
3. Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2022-09
4. Detecting pathogenic deep intronic variants in Gitelman syndrome;American Journal of Medical Genetics Part A;2022-07-03
5. Gitelman syndrome with a novel frameshift variant in SLC12A3 gene accompanied by chronic kidney disease and type 2 diabetes mellitus;CEN Case Reports;2021-10-06
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