Suppr超能文献

多个个体内脂溢性角化病中FGFR3突变的谱系

Spectrum of FGFR3 mutations in multiple intraindividual seborrheic keratoses.

作者信息

Hafner Christian, Hartmann Arndt, Real Francisco X, Hofstaedter Ferdinand, Landthaler Michael, Vogt Thomas

机构信息

Department of Dermatology, University of Regensburg, Regensburg, Germany.

出版信息

J Invest Dermatol. 2007 Aug;127(8):1883-5. doi: 10.1038/sj.jid.5700804. Epub 2007 Mar 29.

Abstract

Somatic FGFR3 mutations have recently been identified in seborrheic keratoses (SK). Affected individuals often show a large number of SK, but their spectrum of FGFR3 mutations has not been investigated yet. We analyzed 78 SK of four patients using a SNaPshot multiplex assay. FGFR3 mutations were detected in 46 of 78 SK (59%). The mutation rates of the patients ranged from 26 to 89%. Each patient showed at least four different mutated loci. FGFR3 mutations appear to be common genetic alterations in multiple SK with a varying interindividual mutation frequency but without specific intraindividual hot spots.

摘要

近期在脂溢性角化病(SK)中发现了体细胞FGFR3突变。受影响个体通常有大量SK,但尚未对其FGFR3突变谱进行研究。我们使用SNaPshot多重检测法分析了4例患者的78个SK。在78个SK中的46个(59%)检测到FGFR3突变。患者的突变率在26%至89%之间。每位患者至少有四个不同的突变位点。FGFR3突变似乎是多个SK中常见的基因改变,个体间突变频率不同,但个体内无特定热点。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验