Functional Testing of SLC26A4 Variants—Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria
Author:
Publisher
MDPI AG
Subject
Inorganic Chemistry,Organic Chemistry,Physical and Theoretical Chemistry,Computer Science Applications,Spectroscopy,Molecular Biology,General Medicine,Catalysis
Link
http://www.mdpi.com/1422-0067/19/1/209/pdf
Reference78 articles.
1. Genetic Diagnosis of Deafness;Da Silva Costa,2017
2. Disease-targeted sequencing: a cornerstone in the clinic
3. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review
4. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
5. Pendred Syndrome/DFNB4;Alasti,1993
Cited by 17 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. Novel GJB2 mutation c.188delT compound with c.235delC causing non-syndromic hearing loss in a Chinese family: A case report;Medicine;2024-08-16
2. Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria;European Archives of Oto-Rhino-Laryngology;2024-02-24
3. Melatonin protects Kir2.1 function in an oxidative stress‐related model of aging neuroglia;BioFactors;2023-12-14
4. Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of the SLC26A4 gene: a case report and literature review;Frontiers in Genetics;2023-09-07
5. Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review;Biomedicines;2023-06-12
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