A Novel Mutation of a Leucine Residue in Coil 1A of Keratin 9 in Epidermolytic Palmoplantar Keratoderma
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Dermatology,Molecular Biology,Biochemistry
Reference20 articles.
1. Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis;Bonifas;J Invest Dermatol,1994
2. Epidermal disease: faulty keratin filaments take their toll;Compton;Nat Cenet,1994
3. Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene;Dietz;J Clin Invest,1992
4. A synthetic peptide representing the consensus sequence motif at the carboxy-terminal end of the rod domain inhibits intermediate filament assembly and disassembles preformed filaments;Hatzfeld;J Cell Bios,1992
5. Keratin 9 gene mutational heterogencity in patients with epidermolytic palmoplantar keratoderma;Hennies;Hum Genet,1994
Cited by 28 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. Exome sequencing identifies a KRT9 pathogenic variant in a Chinese pedigree with epidermolytic palmoplantar keratoderma;Molecular Genetics & Genomic Medicine;2019-05-09
2. Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma;Frontiers in Genetics;2019-01-07
3. Identification of a Novel Keratin 9 Missense Mutation in a Chinese Family with Epidermolytic Palmoplantar Keratoderma;Cellular Physiology and Biochemistry;2018
4. A recurrent p.M157R mutation of keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma and literature review;International Journal of Dermatology;2014-06-05
5. Thickened Palms and Soles in a Toddler;Pediatric Dermatology;2009-03-16
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