Functional associations of genetic variants involved in the clinical manifestation of erythropoietic protoporphyria in the Argentinean population
Author:
Publisher
Wiley
Subject
Infectious Diseases,Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1468-3083.2012.04566.x/fullpdf
Reference63 articles.
1. Erythropoietic protoporphyria. A new porphyria syndrome with solar urticaria due to protoporphyrinaemia;Magnus;Lancet,1961
2. Molecular cloning and sequence analysis of cDNA encoding human ferrochelatase;Nakahashi;Biochem Biophys Res Commun,1990
3. Assignment of human ferrochelatase gene (FECH) and a locus for protoporphyria on chromosome 18q22;Whitcombe;Genomics,1991
4. Structure of human ferrochelatase gene. Exon/intron gene organization and location of the gene to chromosome 18;Taketani;Eur J Biochem,1992
5. A molecular defect in human protoporphyria;Brenner;Am J Hum Genet,1992
Cited by 5 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. Diagnosis and treatment of icteric hepatitis caused by erythropoietic protoporphyria: A case report;Liver Research;2022-06
2. Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism;Genetics in Medicine;2020-01
3. Erythropoietic Protoporphyria in a Japanese Population;Acta Dermato Venereologica;2019
4. Digital PCR (dPCR) analysis reveals that the homozygous c.315–48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP);Molecular Genetics and Metabolism;2018-08
5. A case of erythropoietic protoporphyria who was diagnosed genetically and whose serial liver specimens showed significant progression of fibrosis;Kanzo;2017
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