The first reported case of a deletion of the entire RPGR gene in a family with X-linked retinitis pigmentosa-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

The first reported case of a deletion of the entire RPGR gene in a family with X-linked retinitis pigmentosa

Published:2022-06-01 Issue:5 Volume:43 Page:679-684
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Mihailovic Nataša¹²^ORCID,Schimpf-Linzenbold Simone³,Sattler Inga³,Eter Nicole¹,Heiduschka Peter¹

Affiliation:

1. Department of Ophthalmology, University of Muenster Medical Center, Muenster, Germany

2. Department of Ophthalmology, Klinikum Fulda, University of Marburg Campus Fulda, Fulda, Germany

3. Zentrum für Humangenetik Tübingen, Praxis fuer Humangenetik und CeGaT GmbH, Tuebingen, Germany

Funder

funding associated

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2022.2083181

Reference9 articles.

1. Molecular Strategies for RPGR Gene Therapy

2. Codon-Optimized RPGR Improves Stability and Efficacy of AAV8 Gene Therapy in Two Mouse Models of X-Linked Retinitis Pigmentosa

3. Novel mutations of RPGR in Chinese families with X-linked retinitis pigmentosa

4. Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations

5. Exploring the Variable Phenotypes of RPGR Carrier Females in Assessing their Potential for Retinal Gene Therapy

Cited by 3 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. Novel hemizygous single‐nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss;Molecular Genetics & Genomic Medicine;2024-02

2. Xp21 DNA microdeletion syndrome in a Chinese family: clinical features show retinitis pigmentosa and chronic granuloma;Frontiers in Genetics;2024-01-26

3. X-Linked Retinitis Pigmentosa Gene Therapy: Preclinical Aspects;Ophthalmology and Therapy;2022-11-08

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