Splicing mutation in MVK is a cause of porokeratosis of Mibelli
Author:
Publisher
Springer Science and Business Media LLC
Subject
Dermatology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s00403-014-1465-7.pdf
Reference35 articles.
1. Ammouri W, Cuisset L, Rouaghe S, Rolland MO, Delpech M, Grateau G, Ravet N (2007) Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome. Rheumatology (Oxford) 46:1597–1600
2. Bozdag KE, Bicakci H, Ermete M (2004) Giant porokeratosis. Int J Dermatol 43:518–520
3. Cao HM, Wang ZY, Zhang GW, Liu CF, Pan CM, Zhao SX, Song ZY, Song HD, Zhang L (2012) Identification of a locus (DSP2) for disseminated superficial porokeratosis at chromosome 12q21.2-24.21. Clin Exp Dermatol 37:672–676
4. Cuisset L, Drenth JP, Simon A, Vincent MF, van der Velde Visser S, van der Meer JW, Grateau G, Delpech M, International Hyper-IgD Study Group (2001) Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. Eur J Hum Genet 9:260–266
5. Drenth JP, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG, Beckmann JS, van der Meer JW, Delpech M (1999) Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat Genet 22:178–181
Cited by 14 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. Porokeratosis of Mibelli Treated With Topical 2% Lovastatin/2% Cholesterol Ointment;Cureus;2024-07-31
2. Inherited Disorders of Cornification;Rook's Textbook of Dermatology;2024-03-19
3. Porokeratoses—A Comprehensive Review on the Genetics and Metabolomics, Imaging Methods and Management of Common Clinical Variants;Metabolites;2023-11-26
4. Verrucous Linear Porokeratosis with Dermal Amyloid Deposits – A Rare Presentation;Indian Dermatology Online Journal;2023-11-07
5. Molecular characterization of Porokeratosis in Tunisian patients with intraindividual and intrafamilial clinical heterogeneity;2023-04-06
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