Life-long Course and Molecular Characterization of the Original Dutch Family with Epidermolysis Bullosa Simplex with Muscular Dystrophy due to a Homozygous Novel Plectin Point Mutation-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Life-long Course and Molecular Characterization of the Original Dutch Family with Epidermolysis Bullosa Simplex with Muscular Dystrophy due to a Homozygous Novel Plectin Point Mutation

Published:2004-03-01 Issue:2 Volume:84 Page:124-131
ISSN:0001-5555
Container-title:Acta Dermato-Venereologica
language:
Short-container-title:Acta Dermato-Venereologica

Author:

D. Koss-Harnes,B. Høyheim,Jonkman M. F.,Groot W. P. De,Weerdt C. J. De,B. Nikolic,G. Wiche,Jr T. Gedde-Dahl

Publisher

Medical Journals Sweden AB

Subject

Dermatology,General Medicine

Cited by 17 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. Plectin Deficiency in Fibroblasts Deranges Intermediate Filament and Organelle Morphology, Migration, and Adhesion;Journal of Investigative Dermatology;2023-09

2. Mutation update: The spectra of PLEC sequence variants and related plectinopathies;Human Mutation;2022-07-29

3. Muscle-Related Plectinopathies;Cells;2021-09-19

4. Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity;Clinical Chemistry;2021-05-10

5. Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features;Genes;2020-06-27

同舟云学术

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