Novel compound heterozygous mutations in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct
Author:
Affiliation:
1. Beijing Tongren Hospital, Capital Medical University; Beijing Institute of Otolaryngology; Key Laboratory of Otolaryngology, Head and Neck Surgery, Ministry of Education
Publisher
International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)
Subject
General Biochemistry, Genetics and Molecular Biology,General Medicine,Health (social science)
Link
https://www.jstage.jst.go.jp/article/bst/12/5/12_2018.01260/_pdf
Reference21 articles.
1. 1. Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet. 1997; 17:411–422.
2. 2. Azaiez H, Yang T, Prasad S, Sorensen JL, Nishimura CJ, Kimberling WJ, Smith RJ. Genotype–phenotype correlations for SLC26A4-related deafness. Hum Genet. 2007; 122:451-457.
3. 3. Scott DA, Karniski LP. Human pendrin expressed in Xenopus laevis oocytes Mediates chloride/format exchange. Am J Physiol Cell Physiol. 2000; 278:07-11.
4. 4. Martini A, Calzolari F, Sensi A. Genetic syndromes involving hearing. Int J Pediatr Otorhinolaryngol. 2009; 73:S2–S12.
5. 5. Li X, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER. A mutation in PDS causes non-syndromic recessive deafness. Nat. Genet. 1998; 18:215–217.
Cited by 3 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. 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
2. Contralateral hearing loss in children with a unilateral enlarged vestibular aqueduct;International Journal of Pediatric Otorhinolaryngology;2021-11
3. Mutation analysis of the SLC26A4 gene in three Chinese families;BioScience Trends;2019-10-31
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