Identification of Mutations in the Duplicated Region of the Polycystic Kidney Disease 1 Gene (PKD1) by a Novel Approach
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference39 articles.
1. Refined mapping of the gene causing familial Mediterranean fever, by linkage and homozygosity studies;Aksentijevich;Am J Hum Genet,1993
2. Genetic heterogeneity of polycystic kidney disease in Bulgaria;Bogdanova;Hum Genet,1995
3. Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis;Brasier;J Clin Invest,1997
4. Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease–-a contiguous gene syndrome;Brook-Carter;Nat Genet,1994
5. Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat;Burn;Hum Mol Genet,1995
Cited by 88 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. Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD;npj Genomic Medicine;2023-07-07
2. Identification of missense and synonymous variants in Iranian patients suffering from autosomal dominant polycystic kidney disease;BMC Nephrology;2020-09-21
3. Recent advances in the clinical management of autosomal dominant polycystic kidney disease;F1000Research;2019-01-29
4. A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report;BMC Medical Genetics;2018-11-13
5. Genetics and Genomics of Acute Neurologic Disorders;AACN Advanced Critical Care;2018-03-15
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