A case of xeroderma pigmentosum complementation group C with diverse clinical features-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A case of xeroderma pigmentosum complementation group C with diverse clinical features

Published:2018-04-17 Issue:6 Volume:178 Page:1451-1452
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Masaki T.¹^ORCID,Nakano E.¹,Okamura K.²^ORCID,Ono R.¹,Sugasawa K.³,Lee M.-H.⁴,Suzuki T.²,Nishigori C.¹^ORCID

Affiliation:

1. Division of Dermatology, Internal Related; Graduate School of Medicine; Kobe University; Kobe Japan

2. Department of Dermatology; Faculty of Medicine; Yamagata University; Yamagata Japan

3. Biological Research Center; Kobe University; 1-1, Rokkodai, Nada-ku Kobe 657-8501 Japan

4. Department of Dermatology; School of Medicine; Kyung Hee University; Seoul Korea

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjd.16339/fullpdf

Reference8 articles.

1. Useful applications of DNA repair tests for differential diagnosis of atypical dyschromatosis symmetrica hereditaria from xeroderma pigmentosum;Ohtoshi;Br J Dermatol,2001

2. Mutations in ABCB6 cause dyschromatosis universalis hereditaria;Zhang;J Invest Dermatol,2013

3. A novel XPC pathogenic variant detected in archival material from a patient diagnosed with xeroderma pigmentosum: a case report and review of the genetic variants reported in XPC;Rivera-Begeman;DNA Repair,2007

4. Two-step recognition of DNA damage for mammalian nucleotide excision repair: directional binding of the XPC complex and DNA strand scanning;Sugasawa;Mol Cell,2009

Cited by 7 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. Dyschromatosis universalis hereditaria;International Journal of Dermatology;2023-08-27

2. Whole Exome Sequencing of a Patient with a Milder Phenotype of Xeroderma Pigmentosum Group C;Medicina;2023-04-03

3. Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria;BMC Medical Genomics;2021-06-26

4. Xeroderma Pigmentosum in a Pediatric Patient with a Progressive Pterygium-like Lesion;Journal of the Korean Ophthalmological Society;2021-01-15

5. Identification of a Novel Mutation in SASH1 Gene in a Chinese Family With Dyschromatosis Universalis Hereditaria and Genotype-Phenotype Correlation Analysis;Frontiers in Genetics;2020-08-04

同舟云学术

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