Missense Mutation in the USH2A Gene: Association with Recessive Retinitis Pigmentosa without Hearing Loss
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference12 articles.
1. Usher syndrome: definition and estimate of prevalence from two high-risk populations;Boughman;J Chronic Dis,1983
2. Prevalence of hearing loss in older adults in Beaver Dam, Wisconsin: The Epidemiology of Hearing Loss Study;Cruickshanks;Am J Epidemiol,1998
3. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa;Eudy;Science,1998
4. Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa;Hagstrom;Nat Genet,1998
5. A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene;Jain;Genomics,1998
Cited by 205 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. Metabonomics and Transcriptomics Analyses Reveal the Development Process of the Auditory System in the Embryonic Development Period of the Small Yellow Croaker under Background Noise;International Journal of Molecular Sciences;2024-02-06
2. The p.C759F Variant in <i>USH2A</i> Is a Pathogenic Mutation: Systematic Literature Review and Meta-Analysis of 667 Genotypes;Ophthalmic Research;2023-11-28
3. Expression of the human usherin c.2299delG mutation leads to early-onset auditory loss and stereocilia disorganization;Communications Biology;2023-09-12
4. Successful large gene augmentation of USH2A with non-viral episomal vectors;Molecular Therapy;2023-09
5. Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina;npj Genomic Medicine;2023-05-22
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