First Mal de Meleda report in Chinese Mainland: two families with a recurrent homozygous missense mutation in SLURP-1
Author:
Affiliation:
1. Department of Dermatology; Xinhua Hospital; Shanghai Jiaotong University School of Medicine; 1665 Kongjiang Road Shanghai 200092 China
Publisher
Wiley
Subject
Infectious Diseases,Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/jdv.13038/fullpdf
Reference10 articles.
1. Über Keratoma hereditarium;Neumann;Arch Dermatol Syph,1898
2. Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda;Chimienti;Hum Mol Genet,2003
3. Pseudodominant inheritance with the G86R mutation in the ARS gene in Mal de Meleda;Chao;Int J Dermatol,2006
4. SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda;Tjiu;Br J Dermatol,2011
5. Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region;Bchetnia;Biomed Res Int,2013
Cited by 12 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. Identification of a novel compound heterozygous mutation and a homozygous mutation of SLURP1 in Chinese families with Mal de Meleda;BMC Medical Genomics;2023-07-01
2. First report of Mal de Meleda with pseudo-ainhum treated with gabapentin in a 17-year-old Chinese girl;AUSTRALAS J DERMATOL;2021
3. First report of Mal de Meleda with pseudo‐ainhum treated with gabapentin in a 17‐year‐old Chinese girl;Australasian Journal of Dermatology;2021-05-13
4. Mal de Meleda with homozygous mutation p.G86R in SLURP‐1;International Journal of Dermatology;2020-02-12
5. Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma;Acta Dermato Venereologica;2020
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
"全球学者库"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,当前全球学者库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 © 2019-2023 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