A Presumed Synonymous Mutation of PKD2 Caused Autosomal Dominant Polycystic Kidney Disease in a Chinese Family
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Biochemistry
Link
https://link.springer.com/content/pdf/10.1007/s11596-021-2436-9.pdf
Reference33 articles.
1. Barua M, Pei Y. Diagnosis of Autosomal-Dominant Polycystic Kidney Disease: An Integrated Approach. Semin Nephrol, 2010,30(4):356–365
2. Rossetti S, Consugar MB, Chapman AB, et al. Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. J Am Soc Nephrol, 2007,18(7):2143–2160
3. Cornec-Le Gall E, Audrezet MP, Chen JM, et al. Type of PKD1 mutation influences renal outcome in ADPKD. J Am Soc Nephrol, 2013,24(6):1006–1013
4. Vester U, Kranz B, Hoyer PF. The diagnostic value of ultrasound in cystic kidney diseases. Pediatr Nephrol, 2010,25(2):231–240
5. Chapman AB, Johnson AM, Gabow PA, et al. Overt proteinuria and microalbuminuria in autosomal dominant polycystic kidney disease. J Am Soc Nephrol, 1994,5(6):1349–1354
Cited by 6 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. A novel de novo synonymous variant in GREB1L impacts the mRNA splicing associated with aplasia of the urogenital system;American Journal of Medical Genetics Part A;2024-08-02
2. A novel splice-altering TNC variant (c.5247A > T, p.Gly1749Gly) in an Chinese family with autosomal dominant non-syndromic hearing loss;BMC Medical Genomics;2024-07-17
3. Identification of a synonymous variant of NPHP3 causing aberrant splicing and its pathogenicity in a Chinese pedigree;2023-11-21
4. A novel heterozygous PKD1 variant causing alternative splicing in a Chinese family with autosomal dominant polycystic kidney disease;Molecular Genetics & Genomic Medicine;2023-06-05
5. Clinical, histological and molecular characteristics of Alport syndrome in Chinese children;Journal of Nephrology;2023-04-25
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