Leu518Pro mutation of the βig-h3 gene causes lattice corneal dystrophy type I
Author:
Publisher
Elsevier BV
Subject
Ophthalmology
Reference5 articles.
1. Kerato-epithelin mutations in four 5p31-linked corneal dystrophies;Munier;Nat Genet,1997
2. Homogeneity of kerato-epithelin codon 124 mutations in Japanese patients with either of two types of corneal stromal dystrophy;Mashima;Am J Hum Genet,1997
3. A keratoepithelin (βig-h3) mutation in lattice corneal dystrophy type IIIA;Yamamoto;Am J Hum Genet,1998
4. Hotta Y, Fujiki K, Ono K, et al. Arg124Cys mutation of the βig-h3 gene in a Japanese family with lattice corneal dystrophy type I. Jpn J Ophthalmol 1998. Forthcoming.
5. Fujiki K, Hotta Y, Nakayasu K, et al. A new L527R mutation of the βig-h3 gene in patients with lattice corneal dystrophy with deep stromal opacities. Hum Genet. Forthcoming.
Cited by 49 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. Ocular genetics in the Japanese population;Japanese Journal of Ophthalmology;2024-09-14
2. 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
3. An Arg124Cys mutation in transforming growth factor β-induced gene associated with lattice corneal dystrophy type I in a Chinese pedigree;Indian Journal of Ophthalmology;2022
4. A pathogenic variant in the transforming growth factor beta I ( TGFBI ) in four Iranian extended families segregating granular corneal dystrophy type II: A literature review;IRAN J BASIC MED SCI;2020
5. Biochemical mechanisms of aggregation in TGFBI-linked corneal dystrophies;Progress in Retinal and Eye Research;2020-07
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