Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disorders
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference26 articles.
1. Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I;Astuto;Am J Hum Genet,2000
2. Usher syndrome: definition and estimate of prevalence from two high risk populations;Boughman;J Chron Dis,1983
3. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene;Denoyelle;Hum Mol Genet,1997
4. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa;Eudy;Science,1998
5. Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population;Gabriel;Hum Mutat,2001
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. The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK);Genetics in Medicine;2022-02
2. The Importance of Automation in Genetic Diagnosis: Lessons from Analyzing an Inherited Retinal Degeneration Cohort with the Mendelian Analysis Toolkit (MATK);2021-04-13
3. Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration;Genetics in Medicine;2019-03
4. Contribution of non-coding mutations to RPGRIP1-mediated inherited retinal degeneration;2017-10-30
5. Comparative study of mutation spectrums of MT-RNR1 m.1555A > G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han;CHINESE MED J-PEKING;2014
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