Splice site mutation in COL7A1 resulting in aberrant in-frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial
Author:
Affiliation:
1. Department of Dermatology; Keio University School of Medicine; Tokyo Japan
2. Research Laboratories; KOSÉ Corporation; Tokyo Japan
3. Department of Dermatology; School of Medicine; Faculty of Medicine; Toho University; Tokyo Japan
Publisher
Wiley
Subject
Dermatology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/1346-8138.14271/fullpdf
Reference15 articles.
1. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification;Fine;J Am Acad Dermatol,2014
2. Late-onset pretibial recessive dystrophic epidermolysis bullosa;Mahto;Clin Exp Dermatol,2013
3. Splicing mutation in the COL7A1 gene mRNA exon 71 in a female patient with pretibial epidermolysis bullosa;Kitazawa;J Dermatol,2014
4. Novel glycine substitution G2037R of COL7A1 in a Chinese boy with pretibial epidermolysis bullosa treated with oral olopatadine hydrochloride and topical Vitamin E;Chen;Indian J Dermatol Venereol Leprol,2017
5. A novel COL7A1 gene mutation causing pretibial epidermolysis bullosa: report of a Chinese family with intra-familial phenotypical diversity;Liu;Gene,2013
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. Dystrophic epidermolysis bullosa: genotype-phenotype correlations;Vestnik dermatologii i venerologii;2023-10-16
2. Pruritic Lichenified Plaques on the Legs of a Man;JAMA Dermatology;2021-06-09
3. Morphological and morphometric analysis of cutaneous squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa: a retrospective study;Journal of the European Academy of Dermatology and Venereology;2020-05-15
4. Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa;Molecular Therapy - Nucleic Acids;2019-12
5. Pretibial dystrophic epidermolysis bullosa associated with aberrant exon splicing of type VII collagen;JAAD Case Reports;2019-09
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