Genetic Basis of Bart's Syndrome: A Glycine Substitution Mutation in the Type VII Collagen Gene
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Dermatology,Molecular Biology,Biochemistry
Reference17 articles.
1. Epidermolysis bullosa and congenital localized absence of the skin;Bart;Arch Dermatol,1970
2. Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa: a new syndrome;Bart;Arch Dermatol,1966
3. Cloning of human type VII collagen. Complete primary sequence of the α1 (VII) chain and identificatin of intragenic polymorphisms;Christiano;J Biol Chem,1994
4. Structural organization of the human type VII collagen gen (COL7A1), comprised of more exons than any previously characterized gene;Christiano;Genomics,1994
5. Dominant dystrophic epidermolysis bullosa: identification of a glycine-to-serine substitution in the triple-helical domain of type VII collagen;Christiano;Proc Natl Acad Sci USA,1994
Cited by 29 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. Twin Neonates With Bart’s Syndrome;Cureus;2022-01-18
2. Calcinosis cutis in self‐healing dominant dystrophic epidermolysis bullosa;The Journal of Dermatology;2020-09-04
3. Bart's syndrome in a family affected three consecutive generations with mutation c.6007G>A in COL7A1;The Journal of Dermatology;2018-05-03
4. Case report of dystrophic epidermolysis bullosa confirmed by genetic analysis;Medical Studies;2015
5. CONGENITAL LOCALISED ABSENCE OF SKIN (BART ’ S SYNDROME ) RARE CASE REPORT;Journal of Evolution of Medical and Dental Sciences;2014-12-18
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