Two novel mutations affecting the same splice site ofPKD1correlate with different phenotypes in ADPKD
Author:
Publisher
Informa UK Limited
Subject
Nephrology,Critical Care and Intensive Care Medicine,General Medicine
Link
http://www.tandfonline.com/doi/pdf/10.3109/0886022X.2014.890010
Reference23 articles.
1. Polycystic Kidney Disease
2. The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16
3. PKD2 , a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein
4. Adult patients with sporadic polycystic kidney disease: the importance of screening for mutations in the PKD1 and PKD2 genes
5. Putative mutation of PKD1 gene responsible for autosomal dominant polycystic kidney disease in a Chinese family
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. De novo myelodysplastic syndrome in a Rothmund-Thomson Syndrome patient with novel pathogenic RECQL4 variants;Blood Science;2023-02-20
2. The Clinical Manifestation and Management of Autosomal Dominant Polycystic Kidney Disease in China;Kidney Diseases;2016
3. Genetics and Pathogenesis of Autosomal Dominant Polycystic Kidney Disease: 20 Years On;Human Mutation;2014-11-24
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