PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease
Author:
Affiliation:
1. Moorfields Eye Hospital, London, United Kingdom
2. UCL Institute of Ophthalmology, University College London, London, United Kingdom
3. Great Ormond Street Hospital for Children, London, United Kingdom
Publisher
Association for Research in Vision and Ophthalmology (ARVO)
Reference55 articles.
1. Functional evaluation in inherited retinal disease;Daich Varela;Br J Ophthalmol,2022
2. Syndromic inherited retinal diseases: genetic, clinical and diagnostic aspects;Tatour;Diagnostics,2020
3. Juvenile Batten disease (CLN3): detailed ocular phenotype, novel observations, delayed diagnosis, masquerades, and prospects for therapy;Wright;Ophthalmol Retin,2020
4. Ophthalmic manifestations and genetics of the polyglutamine autosomal dominant spinocerebellar ataxias: a review;Park;Front Neurosci,2020
5. Inherited causes of combined vision and hearing loss: clinical features and molecular genetics;de Guimaraes;Br J Ophthalmol,2023
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