Modern genomic techniques in the identification of genetic causes of cardiomyopathy.

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第一作者： Timothy F,Spracklen

第一单位： Cape Heart Institute, University of Cape Town Department of Medicine, Cape Town, South Africa.

作者： Timothy F,Spracklen ^[1] ; Bernard,Keavney ^[2] ; Nakita,Laing ^[3] ; Ntobeko,Ntusi ^[4] ; Gasnat,Shaboodien ^[1]

作者单位： Cape Heart Institute, University of Cape Town Department of Medicine, Cape Town, South Africa. ^[1] Department of Paediatrics and Child Health, University of Cape Town, Cape Town, South Africa. ^[2] Division of Cardiovascular Sciences, The University of Manchester, Manchester, UK. ^[3] Division of Human Genetics, University of Cape Town, Cape Town, South Africa. ^[4] Department of Medicine, University of Cape Town, Cape Universities Body Imaging Centre, Cape Town, South Africa. ^[5] Cape Heart Institute, University of Cape Town Department of Medicine, Cape Town, South Africa gasnat.shaboodien@uct.ac.za. ^[6]

关键词 cardiomyopathies genetic diseases genetics inborn

主题词人类(Humans);儿童(Child);心肌疾病(Cardiomyopathies);基因检测(Genetic Testing);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);心肌病, 肥厚性(Cardiomyopathy, Hypertrophic);基因组学(Genomics)

DOI 10.1136/heartjnl-2021-320424

PMID 35140110

发布时间 2024-03-20

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准确一般字义偏差语意偏离译文作用小提交