Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation inWFS1
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference37 articles.
1. American Journal of Medical Genetics 01487299 10968628 2004
2. Missense variations of the gene responsible for Wolfram syndrome (WFS1/wolframin) in Japanese: Possible contribution of the Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis;Awata;Biochem Biophys Res Commun,2000
3. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss;Bespalova;Hum Mol Genet,2001
4. A population-based study of Graves' disease in Danish twins;Brix;Clin Endocrinol (Oxf),1998
5. What is the evidence of genetic factors in the etiology of Graves' disease? A brief review;Brix;Thyroid,1998
Cited by 19 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. Clinical Characteristics and Audiological Profiles of Patients with Pathogenic Variants of WFS1;Journal of Clinical Medicine;2024-08-16
2. Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review;Biomedicines;2023-06-01
3. WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome;BMC Medical Genomics;2023-04-11
4. Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss;Audiology and Neurotology;2023
5. A Novel Missense WFS1 Variant: Expanding the Mutational Spectrum Associated with Nonsyndromic Low-Frequency Sensorineural Hearing Loss;BioMed Research International;2022-10-03
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