PRPH2-Associated Macular Dystrophy in 4 Family Members with a Novel Mutation-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

PRPH2-Associated Macular Dystrophy in 4 Family Members with a Novel Mutation

Published:2021-12-14 Issue: Volume: Page:1-5
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Choi Hanna¹²^ORCID,Cloutier Alan²,Lally David²³

Affiliation:

1. Department of Biology, University of Massachusetts, Amherst, Massachusetts, USA

2. New England Retina Consultants, Springfield, Massachusetts, USA

3. Department of Surgery, University of Massachusetts Medical School-Baystate, Springfield, Massachusetts, USA

Funder

funding

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2021.2015790

Reference28 articles.

1. PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation

2. ABCA4andROM1:Implications for Modification of thePRPH2-Associated Macular Dystrophy Phenotype

3. Phenotypic Variability and Long-term Follow-up of Patients With Known and Novel PRPH2/RDS Gene Mutations

4. Prevalence of Disease-Causing Mutations in Families with Autosomal Dominant Retinitis Pigmentosa: A Screen of Known Genes in 200 Families

Cited by 2 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. Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients;Investigative Ophthalmology & Visual Science;2024-05-14

2. New Insights on the Regulatory Gene Network Disturbed in Central Areolar Choroidal Dystrophy—Beyond Classical Gene Candidates;Frontiers in Genetics;2022-05-17

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