Whole exome sequencing identifies both nuclear and mitochondrial variations in an Iranian family with non-syndromic hearing loss

Author:

Khatami Somayeh,Rokni-Zadeh HassanORCID,Mohsen-Pour Neda,Biglari Alireza,Changi-Ashtiani Majid,Shahrooei Mohammad,Shahani TinaORCID

Funder

Zanjan University of Medical Sciences

Iran National Science Foundation

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Molecular Medicine

Reference32 articles.

1. A six-generation Chinese family in haplogroup B4C1C exhibits high penetrance of 1555A > G-induced hearing Loss;Bai;BMC Med. Genet.,2010

2. Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations;Ballana;Hum. Mutat.,2008

3. Heterogeneity of hereditary hearing loss in Iran: a comprehensive review;Beheshtian;Arch. Iranian Med.,2016

4. Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox–Gastaut syndrome;Delmiro;Hum. Mutat.,2013

5. Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss;Diaz-Horta;PLoS One,2012

同舟云学术

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