A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome

Published:2014-04-29 Issue:7 Volume:51 Page:460-469
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Khateb Samer,Zelinger Lina,Mizrahi-Meissonnier Liliana,Ayuso Carmen,Koenekoop Robert K,Laxer Uri,Gross Menachem,Banin Eyal,Sharon Dror

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference41 articles.

1. Prevalence of retinitis pigmentosa in Maine;Bunker;Am J Ophthalmol,1984

2. A study of retinitis pigmentosa in the City of Birmingham. I Prevalence;Bundey;J Med Genet,1984

3. Epidemiology of retinitis pigmentosa in Denmark;Haim;Acta Ophthalmol Scand Suppl,2002

4. Retinitis pigmentosa;Hartong;Lancet,2006

5. Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome;Liu;Am J Hum Genet,1998

Cited by 75 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 cochlear morphology alteration and hearing loss in Cep250 knockout mice;2024-06-19

2. Early Macular Involvement in Non-syndromic Retinitis Pigmentosa;Macular Diseases - An Update [Working Title];2023-12-06

3. Novel Variant in CEP250 Causes Protein Mislocalization and Leads to Nonsyndromic Autosomal Recessive Type of Progressive Hearing Loss;Cells;2023-09-21

4. Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases;International Journal of Molecular Sciences;2023-06-26

5. Next-generation sequencing-based genetic testing and phenotype correlation in retinitis pigmentosa patients from India;Indian Journal of Ophthalmology;2023-06

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