Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference15 articles.
1. Mizuo phenomenon in X-linked retinoschisis: pathogenesis of the Mizuo phenomenon;deJong;Arch Opthalmol,1991
2. Retinal age pigments generated by self-assembling lysosomotrophic detergents;Eldred;Nature,1993
3. Mitochondrial tRNA mutation associated with non-syndromic deafness;Fischel-Ghodsian;Am J Otolaryng,1995
4. A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese;Fuchs;Nature Genet,1995
5. A segment corresponding to amino acids Val170-Arg182 of bovine arrestin is capable of binding to phosphorylated rhodopsin;Kieselbach;Eur J Biochem,1994
Cited by 22 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. Genetic analysis and clinical features of three Chinese patients with Oguchi disease;Documenta Ophthalmologica;2022-11-22
2. Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease;BMC Ophthalmology;2022-05-12
3. Updating the Genetic Landscape of Inherited Retinal Dystrophies;Frontiers in Cell and Developmental Biology;2021-07-13
4. Oguchi's disease: two cases and literature review;Journal of International Medical Research;2021-05
5. Congenital Stationary Night Blindness (CSNB): An Inherited Retinal Disorder Where Clear Correlations Can Be Made;Essentials in Ophthalmology;2021
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