MYO15A splicing mutations in hearing loss: A review literature and report of a novel mutation
Author:
Publisher
Elsevier BV
Subject
Otorhinolaryngology,General Medicine,Pediatrics, Perinatology and Child Health
Reference25 articles.
1. Newborn hearing screening–a silent revolution;Morton;N. Engl. J. Med.,2006
2. Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?;Hilgert;Mutat. Res.,2009
3. A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17;Friedman;Nat. Genet.,1995
4. Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2;Liang;Am. J. Hum. Genet.,1998
5. Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3;Wang;Sci. (New York, NY),1998
Cited by 18 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. Exploring Splice-Site Mutations in LAMA2-Related Muscular Dystrophies: A Comprehensive Analysis of Genotypic and Phenotypic Patterns;Cureus;2024-06-03
2. Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene;Human Genomics;2023-02-20
3. A novel stop-gain pathogenic variant in the KCNQ1 gene causing long QT syndrome 1;European Journal of Medical Research;2023-01-12
4. Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A;BMC Medical Genomics;2022-11-18
5. CELSR1 Risk Alleles in Familial Bicuspid Aortic Valve and Hypoplastic Left Heart Syndrome;Circulation: Genomic and Precision Medicine;2022-04
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