RPE65mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

RPE65mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China

Published:2019-07-05 Issue:2 Volume:98 Page:
ISSN:1755-375X
Container-title:Acta Ophthalmologica
language:en
Short-container-title:Acta Ophthalmol

Author:

Li Shiqiang¹,Xiao Xueshan¹,Yi Zhen¹,Sun Wenmin¹^ORCID,Wang Panfeng¹,Zhang Qingjiong¹

Affiliation:

1. State Key Laboratory of Ophthalmology Zhongshan Ophthalmic Center Sun Yat‐sen University Guangzhou China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Ophthalmology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/aos.14181

Reference47 articles.

1. Gene Therapy for Retinal Degeneration

2. Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark

3. Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa

4. A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

5. Comprehensive Mutation Analysis by Whole-Exome Sequencing in 41 Chinese Families With Leber Congenital Amaurosis

Cited by 19 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. A novel homozygous missense mutation in the RPE65 gene in an Iranian family with retinitis pigmentosa;Gene Reports;2024-06

2. A Molecular Genetic Analysis of RPE65-Associated Forms of Inherited Retinal Degenerations in the Russian Federation;Genes;2023-11-09

3. Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants;PeerJ;2023-08-02

4. FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population;Genes;2023-04-21

5. The Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Common Type of Recessive Extreme High Myopia;Investigative Opthalmology & Visual Science;2023-03-16

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