An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
第一作者:
Jamie D,Kapplinger
第一单位:
Department of Medicine, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota, USA.
作者:
医学主题词
青少年(Adolescent);成年人(Adult);老年人(Aged);老年人, 80以上(Aged, 80 and over);Brugada综合征(Brugada Syndrome);病例对照研究(Case-Control Studies);儿童(Child);儿童, 学龄前(Child, Preschool);数据库, 遗传学(Databases, Genetic);猝死, 心脏(Death, Sudden, Cardiac);外显子(Exons);女(雌)性(Female);基因检测(Genetic Testing);基因型(Genotype);人类(Humans);婴儿(Infant);国际性(Internationality);男(雄)性(Male);中年人(Middle Aged);多元分析(Multivariate Analysis);肌蛋白质类(Muscle Proteins);突变, 误义(Mutation, Missense);回顾性研究(Retrospective Studies);危险因素(Risk Factors);钠通道(Sodium Channels);青年人(Young Adult)
DOI
10.1016/j.hrthm.2009.09.069
PMID
20129283
发布时间
2025-05-29
- 浏览15
Heart rhythm
33-46页
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