A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2011.10414.x/fullpdf
Reference17 articles.
1. The classification of inherited epidermolysis bullosa (EB): report of the third international consensus meeting on diagnosis and classification of EB;Fine;J Am Acad Dermatol,2008
2. Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features;McGrath;Br J Dermatol,1994
3. Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization;Drera;Clin Genet,2006
4. Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations;Schumann;Br J Dermatol,2008
5. New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter;Almaani;Acta Derm Venereol,2009
Cited by 19 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. Code inside the codon: The role of synonymous mutations in regulating splicing machinery and its impact on disease;Mutation Research/Reviews in Mutation Research;2022-07
2. Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa;Molecular Genetics & Genomic Medicine;2022-02-28
3. Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa;Molecular Therapy - Nucleic Acids;2019-12
4. Dominant Dystrophic Epidermolysis Bullosa Pruriginosa Responding to Naltrexone Treatment;Acta Dermato Venereologica;2019
5. The clinical phenotype and a novel COL7A1 mutation in a Chinese family with dystrophic epidermolysis bullosa pruriginosa;Journal of the European Academy of Dermatology and Venereology;2018-07-06
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