Novel non-contiguous exon duplication in choroideremia-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Novel non-contiguous exon duplication in choroideremia

Published:2017-04-19 Issue:1 Volume:93 Page:144-148
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Edwards T.L.¹²,Williams J.³^ORCID,Patrício M.I.¹^ORCID,Simunovic M.P.¹²,Shanks M.³,Clouston P.³,MacLaren R.E.¹²⁴

Affiliation:

1. Department of Clinical Neurosciences; Nuffield Laboratory of Ophthalmology, University of Oxford; Oxford UK

2. Oxford Eye Hospital; Oxford University Hospital NHS Foundation Trust; Oxford UK

3. Oxford Medical Genetics Laboratories, Churchill Hospital; Oxford University Hospital NHS Foundation Trust; Oxford UK

4. Moorfields Eye Hospital; UCL Institute of Ophthalmology NIHR Biomedical Research Centre; London UK

Funder

Nuffield Trust

Oxford University Hospitals Foundation Trust, NIHR Biomedical Research Centre

Fight for Sight

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13021/fullpdf

Reference11 articles.

1. Visual function and central retinal structure in choroideremia;Heon;Invest Ophthalmol Vis Sci,2016

2. Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase;Seabra;Science,1993

3. Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase;Esposito;Hum Mutat,2011

4. Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy;Freund;Mol Genet Genomic Med,2016

5. New type of mutations in three spanish families with choroideremia;Garcia-Hoyos;Invest Ophthalmol Vis Sci,2008

Cited by 8 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. iPSCs for modeling choroideremia;Novel Concepts in iPSC Disease Modeling;2022

2. Expression of Rab Prenylation Pathway Genes and Relation to Disease Progression in Choroideremia;Translational Vision Science & Technology;2021-07-13

3. Side-grooved Charpy impact testing: Assessment of splitting and fracture properties of high-toughness plate steels;Engineering Fracture Mechanics;2021-07

4. A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia;Ophthalmic Genetics;2020-05-22

5. Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses;Human Mutation;2018-11-08

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