Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
第一作者:
Connie R,Bezzina
第一单位:
Department of Clinical and Experimental Cardiology, Heart Failure Research Center, Academic Medical Center, Amsterdam, The Netherlands. c.r.bezzina@amc.uva.nl
作者:
医学主题词
等位基因(Alleles);动物(Animals);碱性螺旋-环-螺旋转录因子类(Basic Helix-Loop-Helix Transcription Factors);Brugada综合征(Brugada Syndrome);病例对照研究(Case-Control Studies);染色体, 人, 3对(Chromosomes, Human, Pair 3);染色体, 人, 6对(Chromosomes, Human, Pair 6);猝死, 心脏(Death, Sudden, Cardiac);女(雌)性(Female);疾病遗传易感性(Genetic Predisposition to Disease);遗传变异(Genetic Variation);全基因组关联研究(Genome-Wide Association Study);人类(Humans);男(雄)性(Male);小鼠(Mice);小鼠, 基因敲除(Mice, Knockout);比值比(Odds Ratio);多态性, 单核苷酸(Polymorphism, Single Nucleotide);阻遏蛋白质类(Repressor Proteins);钠通道(Sodium Channels)
DOI
10.1038/ng.2712
PMID
23872634
发布时间
2025-05-29
- 浏览73
Nature genetics
1044-9页
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