Cone–Rod Dystrophy, Intrafamilial Variability, and Incomplete Penetrance Associated with the R172W Mutation in the Peripherin/RDS Gene
Author:
Publisher
Elsevier BV
Subject
Ophthalmology
Reference37 articles.
1. Development and degeneration of retina in rds mutant mice;Sanyal;J Comp Neurol,1980
2. Absence of receptor outer segments in the retina of rds mutant mice;Sanyal;Neurosci Lett,1981
3. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa;Kajiwara;Nature,1991
4. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy;Wells;Nat Genet,1993
5. A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea;Nichols;Hum Mol Genet,1993
Cited by 72 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. Neural (Sensory) Retina;Ocular Pathology;2025
2. Molecular Mechanisms Governing Sight Loss in Inherited Cone Disorders;Genes;2024-06-01
3. Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients;Investigative Ophthalmology & Visual Science;2024-05-14
4. Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes;Progress in Retinal and Eye Research;2024-05
5. Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes;Biomolecules;2024-03-19
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