The Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese Individuals
Author:
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference20 articles.
1. Connexin-26 mutations in sporadic and inherited sensorineural deafness;X Estivill;Lancet,1998
2. Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population;H Gabriel;Hum Mutat,2001
3. Comprehensive molecular etiology analysis of nonsydromic hearing impairment from typical areas in China;Y Yuan;J Transl Med,2009
4. Compound heterozygosity for dominant and recessive GJB2 mutations: effect on phenotype and review of the literature;K.O Welch;Am J Med Genet A,2007
5. A de novo GJB2 (connexin 26) mutation, R75W, in a Chinese pedigree with hearing loss and palmoplantar keratoderma;Y Yuan;Am J Med Genet A,2009
Cited by 25 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. MPZL2—a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population;BMC Medical Genomics;2024-01-23
2. Genetic Factors Contribute to the Phenotypic Variability in GJB2-Related Hearing Impairment;The Journal of Molecular Diagnostics;2023-11
3. Genotypic and Allelic Frequencies of GJB2 Variants and Features of Hearing Phenotypes in the Chinese Population of the Dongfeng-Tongji Cohort;Genes;2023-10-27
4. Optimized concurrent hearing and genetic screening in Beijing, China: A cross-sectional study;BioScience Trends;2023-04-30
5. Analysis of GJB2 gene mutations spectrum and the characteristics of individuals with c.109G>A in Western Guangdong;Molecular Genetics & Genomic Medicine;2023-04-18
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