Influence of the Second COL7A1 Mutation in Determining the Phenotypic Severity of Recessive Dystrophic Epidermolysis Bullosa
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Dermatology,Molecular Biology,Biochemistry
Reference24 articles.
1. Nonsense mutation in the human β-globin gene affect mRNA metabolism;Baserga;Proc Natl Acad Sci USA,1988
2. A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa;Christiano;Nature Genet,1993
3. Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa;Christiano;Genomics,1994
4. Cloning of human type VII collagen. Complete primary sequence of the α1 (VII) chain and identification of intragenic polymorphisms;Christiano;J Biol Chem,1994
5. Structural organization of the human type VII collagen gene (COL7A1), comprised of more exons than any previously characterized gene;Christiano;Genomics,1994
Cited by 47 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. Functional genotype-phenotype associations in recessive dystrophic epidermolysis bullosa;Journal of the American Academy of Dermatology;2024-09
2. Dystrophic epidermolysis bullosa: genotype-phenotype correlations;Vestnik dermatologii i venerologii;2023-10-16
3. Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia;Australasian Journal of Dermatology;2023-07-14
4. Genes and compounds that increase type VII collagen expression as potential treatments for dystrophic epidermolysis bullosa;Experimental Dermatology;2022-03-09
5. Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?;Journal of Assisted Reproduction and Genetics;2022-01-29
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