Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24

Published:2016-06-16 Issue:6 Volume:11 Page:e0157418
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

Lin Benjamin R.^ORCID,Le Derek J.,Chen Yabin,Wang Qiwei,Chung D. Doug,Frausto Ricardo F.,Croasdale Christopher,Yee Richard W.,Hejtmancik Fielding J.,Aldave Anthony J.

Funder

National Eye Institute

National Eye Institute (US)

Research to Prevent Blindness

National Institutes of Health

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference24 articles.

1. Familiäre, fleckige Hornhautentartung;W Reis;Dtsch Med Wochenschr,1917

2. Über eine weitere familiäre Hornhaut dystrophie (Reis);M Bücklers;Klin Monatsbl Augenkeilkd,1949

3. Eine bisher unbekannte subepitheliale hereditare Hornhautdystrophie;HJ Thiel;Klin Monatsbl Augenheilkd,1967

4. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies;FL Munier;Nature genetics,1997

5. Two distinct kerato-epithelin mutations in Reis-Bucklers corneal dystrophy;M Okada;American journal of ophthalmology,1998

Cited by 15 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. HeterozygousCOL17A1variants are a frequent cause of amelogenesis imperfecta;Journal of Medical Genetics;2024-08-30

2. Die aktuelle IC3D-Klassifikation der Hornhautdystrophien – Übersicht und Änderungen der 3. Auflage;Die Ophthalmologie;2024-07-01

3. IC3D Classification of Corneal Dystrophies—Edition 3;Cornea;2024-02-12

4. A Novel Heterozygous TGFBI c.1613C>A Pathogenic Variant is Associated With Lattice Corneal Dystrophy in a Chinese Family;American Journal of Ophthalmology;2023-12

5. Genetic predisposition to ocular surface disorders and opportunities for gene-based therapies;The Ocular Surface;2023-07

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