A Nonsense Mutation in COL4A4 Gene Causing Isolated Hematuria in Either Heterozygous or Homozygous State-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A Nonsense Mutation in COL4A4 Gene Causing Isolated Hematuria in Either Heterozygous or Homozygous State

Published:2019-07-02 Issue: Volume:10 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Yang Cheng,Song Yuan,Chen Zhaowei,Yuan Xiaohan,Chen Xinhua,Ding Guohua,Guan Yang,McGrath Mary,Song Chunhua,Tong Yongqing,Wang Huiming

Funder

National Natural Science Foundation of China

Publisher

Frontiers Media SA

Subject

Genetics (clinical),Genetics,Molecular Medicine

Reference47 articles.

1. NoteExpress (ed 2.0),2005

2. Homozygosity for dominant mutations increases the severity of muscle channelopathies;Arzel-Hezode;Muscle Nerve,2010

3. Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome;Boye;Am. J. Hum. Genet.,1998

4. Homozygotes for the autosomal dominant neoplasia syndrome (MEN1);Brandi;Am. J. Hum. Genet.,1993

5. Segregation of hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome;Buzza;Kidney Int.,2001

Cited by 7 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. The same heterozygous Col4A4 mutation triggered different renal pathological changes in Chinese family members;Frontiers in Genetics;2023-05-31

2. Mutation Analysis of Thin Basement Membrane Nephropathy;Genes;2022-10-02

3. Novel heterozygous mutation in COL4A4 responsible for Alport syndrome in a Chinese family;Frontiers in Genetics;2022-09-09

4. New Insights into Renal Failure in a Cohort of 317 Patients with Autosomal Dominant Forms of Alport Syndrome: Report of Two Novel Heterozygous Mutations in COL4A3;Journal of Clinical Medicine;2022-08-19

5. A spectrum of recessiveness among Mendelian disease variants in UK Biobank;The American Journal of Human Genetics;2022-07

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