Mutations in galactose-1-phosphate uridyltransferase gene in patients with idiopathic presenile cataract
Author:
Affiliation:
1. ; Faculty of Pharmacy; University of Ljubljana; Ljubljana
2. ; University Eye Hospital, University Medical Centre; Ljubljana Slovenia
3. ; University Children's Hospital Ljubljana, University Medical Centre; Ljubljana Slovenia
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/B:BOLI.0000005660.88944.2f/fullpdf
Reference16 articles.
1. The role of polyols in the pathophysiology of galactosemia;Berry;Eur J Pediatr,1995
2. A common mutation associated with the Duarte galactosemia allele;Elsas;Am J Hum Genet,1994
3. Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes;Elsas;Am J Hum Genet,1995
4. Stable isotope dilution analysis of galactitol in amniotic fluid: an accurate approach to the prenatal diagnosis of galactosemia;Jakobs;Pediatr Res,1984
5. Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles;Kozak;J Med Genet,1999
Cited by 20 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. Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review;International Journal of Molecular Sciences;2023-12-12
2. Genotype, Age, Genetic Background, and Sex Influence Epha2-Related Cataract Development in Mice;Investigative Opthalmology & Visual Science;2021-09-08
3. Disorders of galactose metabolism;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020
4. Epha2 genotype influences ultraviolet radiation induced cataract in mice;Experimental Eye Research;2019-11
5. Digestion, absorption, metabolism, and physiological effects of lactose;Lactose;2019
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