机译:使用DHPLC筛选X连锁无软骨细胞外胚层发育不良中的EDA1基因:在意大利患者中鉴定14种新突变
Chiara ConteAzienda Ospedaliera Universitaria Policlinico di Tor Vergata, Rome, Italy.Stefano GambardellaDepartment of Biopathology and Diagnostic Imaging, Tor Vergata University, Rome, Italy.Cristina BulliAzienda Ospedaliera Universitaria Policlinico di Tor Vergata, Rome, Italy.Fabrizio RinaldiDepartment of Biopathology and Diagnostic Imaging, Tor Vergata University, Rome, Italy.Daniele Di MarinoDepartment of Biology and Center of Biostatistics and Bioinformatics, University of Rome “Tor Vergata,” Via della Ricerca Scientifica, Rome, Italy.Mattia FalconiDepartment of Biology and Center of Biostatistics and Bioinformatics, University of Rome “Tor Vergata,” Via della Ricerca Scientifica, Rome, Italy.Placido BramantiIRCCS Centro Neurolesi “Bonino Pulejo,” Messina, Italy.Alessandro DesideriDepartment of Biology and Center of Biostatistics and Bioinformatics, University of Rome “Tor Vergata,” Via della Ricerca Scientifica, Rome, Italy.Giuseppe NovelliAzienda Ospedaliera Universitaria Policlinico di Tor Vergata, Rome, Italy.Department of Biopathology and Diagnostic Imaging, Tor Vergata University, Rome, Italy.;
Identification of 14 Novel Mutations;
机译:使用DHPLC筛选X连锁无软骨细胞外胚层发育不良中的EDA1基因:在意大利患者中鉴定14种新突变
机译:由EDA1基因的新突变引起的X连锁无汗(低汗)外胚层发育不良:406T> G(Leu55Arg)(字母)
机译:X连锁无性外胚层发育不良的日本家庭中EDA1中的一种新型精氨酸->丝氨酸突变(字母)
机译:儿童中颌骨植入物在anhidrotic encerodermal dysplasia:案例报告
机译:ectodysplasin-1的功能表征以及表皮异型增生和相关临床特征的新候选基因的鉴定。
机译:鉴定新的EDA1基因剪接形式可检测到几乎所有X连锁的多汗性外胚层发育不良突变。
机译:由EDA1基因的新突变引起的X连锁无汗(异汗)外胚层发育异常:406T> G(Leu55Arg)