A Distinct Vitreo-retinal Dystrophy with Early-onset Cataract from RecessiveKCNJ13Mutations
Author:
Publisher
Informa UK Limited
Subject
Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health
Link
http://www.tandfonline.com/doi/pdf/10.3109/13816810.2014.985846
Reference19 articles.
1. Mutations in KCNJ13 Cause Autosomal-Dominant Snowflake Vitreoretinal Degeneration
2. Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis
3. Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies
4. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions
Cited by 24 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. The unique structural characteristics of the Kir 7.1 inward rectifier potassium channel: a novel player in energy homeostasis control;American Journal of Physiology-Cell Physiology;2023-03-01
2. Phenotypic expansion of KCNJ13-associated snowflake vitreoretinal degeneration;Ophthalmic Genetics;2022-11-28
3. Protrusion of KCNJ13 Gene Knockout Retinal Pigment Epithelium Due to Oxidative Stress–Induced Cell Death;Investigative Opthalmology & Visual Science;2022-11-22
4. Inward rectifier potassium (Kir) channels in the retina: living our vision;American Journal of Physiology-Cell Physiology;2022-09-01
5. Comprehensive Analysis of CRISPR Base Editing Outcomes for Multimeric Protein;2022-06-20
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
"全球学者库"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,当前全球学者库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 © 2019-2023 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