Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2004.05967.x/fullpdf
Reference30 articles.
1. Genes for intermediate filament proteins and the draft sequence of the human genome
2. The Molecular Genetics of Keratin Disorders
3. Cytokeratin No. 9, an epidermal type I keratin characteristic of a special program of keratinocyte differentiation displaying body site specificity.
4. Concurrence between the Molecular Overlap Regions in Keratin Intermediate Filaments and the Locations of Keratin Mutations in Genodermatoses
Cited by 48 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. De Novo Mutation in KRT1 Leads to Epidermolytic Palmoplantar Keratoderma: from Chinese Traditional Treatment to Prenatal Diagnosis Using Whole-Exome Sequencing-Plus;DNA and Cell Biology;2023-10-01
2. Atypical epidermolytic palmoplantar keratoderma is a minimal phenotypic variant of epidermolytic ichthyosis: A new insight from ultrastructural findings;Journal of the European Academy of Dermatology and Venereology;2023-07-20
3. A Japanese case of Vörner‐type palmoplantar keratoderma caused by a novel KRT1 variant;The Journal of Dermatology;2023-04-30
4. Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads;Journal of the European Academy of Dermatology and Venereology;2022-05-12
5. Identification of a Novel KRT9 Frameshift Mutation in a Chinese Pedigree with Epidermolytic Palmoplantar Keratoderma;INTERNATIONAL JOURNAL OF HUMAN GENETICS;2021-11-25
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