<i>ALPK3</i> gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.

导出 LinkOut

翻译打印收藏纠错

作者： Ahmet Okay,Çağlayan ^[1] ; Rabia Gonul,Sezer ^[2] ; Hande,Kaymakçalan ^[3] ; Ege,Ulgen ^[4] ; Taner,Yavuz ^[2] ; Jacob F,Baranoski ^[5] ; Abdulkadir,Bozaykut ^[2] ; Akdes Serin,Harmanci ^[3] ; Yalim,Yalcin ^[2] ; Mark W,Youngblood ^[6] ; Katsuhito,Yasuno ^[2] ; Kaya,Bilgüvar ^[2] ; Murat,Gunel ^[7]

作者单位： Department of Medical Genetics, School of Medicine, Istanbul Bilim University, Istanbul 34394, Turkey. ^[1] Departments of Neurosurgery, Neurobiology and Genetics, Yale School of Medicine, New Haven, Connecticut 06510, USA. ^[2] Department of Pediatrics, University of Health Sciences, Zeynep Kamil Maternity and Childrens' Diseases Training and Research Hospital, Istanbul 34668, Turkey. ^[3] Department of Pediatrics, School of Medicine, Istanbul Bilim University, Istanbul 34394, Turkey. ^[4] Division of Pediatric Cardiology, Department of Pediatrics, Zeynep Kamil Maternity and Childrens' Diseases Training and Research Hospital, Istanbul 34668, Turkey. ^[5] Division of Pediatric Cardiology, Department of Pediatrics, School of Medicine, Istanbul Bilim University, Istanbul 34394, Turkey. ^[6] Department of Genetics, Yale Center for Genome Analysis, Yale School of Medicine, New Haven, Connecticut 06510, USA. ^[7]

关键词 hypertrophic cardiomyopathy

主题词心肌疾病(Cardiomyopathies);心肌病, 肥厚性(Cardiomyopathy, Hypertrophic);儿童, 学龄前(Child, Preschool);超声心动描记术(Echocardiography);移码突变(Frameshift Mutation);疾病遗传易感性(Genetic Predisposition to Disease);基因检测(Genetic Testing);心脏(Heart);纯合子(Homozygote);人类(Humans);男(雄)性(Male);肌蛋白质类(Muscle Proteins);突变(Mutation);系谱(Pedigree);蛋白激酶类(Protein Kinases)

DOI 10.1101/mcs.a001859

PMID 28630369

发布时间 2018-11-13

翻译满意度评价：

准确一般字义偏差语意偏离译文作用小提交

浏览53

Cold Spring Harbor molecular case studies

2017年3卷5期

相似文献

中文期刊
外文期刊
学位论文
会议论文

检索历史清除

<i>ALPK3</i> gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.

Cold Spring Harbor molecular case studies

相似文献

Cold Spring Harbor molecular case studies

相关期刊

参考文献：
指定格式：	NoteExpress EndNote RefWorks NoteFirst

检索历史 清除

<i>ALPK3</i> gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.

Cold Spring Harbor molecular case studies

相似文献

Cold Spring Harbor molecular case studies

相关期刊

检索历史清除