Analysis of GJB2 mutation: evidence for a Mediterranean ancestor for the 35delG mutation
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2005.00474.x/fullpdf
Reference13 articles.
1. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene;Denoyelle;Hum Mol Genet,1997
2. Determination of the frequency of connexin 26 mutations in inherited sensorineural deafness and carrier rates in the Tunisian population using DGGE;Masmoudi;J Med Genet,2000
3. Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene;Mustapha;J Med Genet,2001
4. Storm K Willocx S Flothmann K Van Camp G Determination of the carrier frequency of the common GJB2 (connexin-26), 35delG mutation in the Belgian population using an easy and reliable screening method Hum Mutat 1999 14:
5. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness;Kelsell;Nature,1997
Cited by 24 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 GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia);Genes;2023-04-28
2. Deep analysis of the LRTOMTc.242G>A variant in non‐syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies;Molecular Genetics & Genomic Medicine;2021-09-13
3. Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges;Human Genetics;2021-07-15
4. The frequency of the homozygote 35delG mutation in the connexin 26 gene in North African with non-syndromic hearing loss: A meta-analysis study;Meta Gene;2021-06
5. High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect;Genes;2020-07-21
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