Clinical Heterogeneity of 1649delG Mutation in the Tail Domain of Keratin 5: A Japanese Family with Epidermolysis Bullosa Simplex with Mottled Pigmentation
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Dermatology,Molecular Biology,Biochemistry
Reference19 articles.
1. Epidermolysis bullosa with mottled pigmentation;Bruckner-Tuderman;J Am Acad Dermatol,1989
2. The genetic basis of Weber–Cockayne epidermolysis bullosa simplex;Chan;Proc Natl Acad Sci USA,1993
3. Epidermolysis bullosa simplex with mottled pigmentation;Coleman;Br J Dermatol,1993
4. Identification of a leucine to proline mutation in the keratin 5 gene in a family with the generalized Koener type of epidermolysis bullosa simplex;Dong;Hum Mutat,1992
5. A common keratin 5 gene mutation in epidermolysis bullosa simplex—Weber–Cockayne;Ehrlich;J Invest Dermatol,1995
Cited by 33 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. Genetic Abnormalities, Melanosomal Transfer, and Degradation inside Keratinocytes Affect Skin Pigmentation;Keratinocyte Biology - Structure and Function in the Epidermis;2022-09-28
2. Hyperpigmentation in a Chinese family with autosomal dominant Cole disease;Experimental Dermatology;2021-07-29
3. Epidermal keratin 5 expression and distribution is under dermal influence;Pigment Cell & Melanoma Research;2019-11-26
4. Epidermolysis Bullosa and Kindler Syndrome;Harper's Textbook of Pediatric Dermatology;2019-11-20
5. Epidermolysis bullosa simplex–generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype‐phenotype correlation and in silico modeling analysis;Pediatric Dermatology;2018-12-04
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