Established Loss-of-Function Variants in ANK2-Encoded Ankyrin-B Rarely Cause a Concerning Cardiac Phenotype in Humans

被引：6

作者：

Giudicessi, John R. ^{[1
]}

Ackerman, Michael J. ^{[2
,3
,4
]}

机构：

[1] Mayo Clin, Dept Cardiovasc Med, Clinician Investigator Training Program, Rochester, MN USA

[2] Mayo Clin, Dept Pediat & Adolescent Med, Div Pediat Cardiol, Rochester, MN USA

[3] Mayo Clin, Dept Cardiovasc Med, Div Heart Rhythm Serv, Rochester, MN USA

[4] Mayo Clin, Dept Mol Pharmacol & Expt Therapeut, Windland Smith Rice Sudden Death Genom Lab, Rochester, MN USA

来源：

CIRCULATION-GENOMIC AND PRECISION MEDICINE | 2020年 / 13卷 / 02期

关键词：

ankyrin; death; sudden; exome; human; mice; phenotype;

D O I：

10.1161/CIRCGEN.119.002851

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页数：3

共 5 条

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[5] Novel Variant in the ANK2 Membrane-Binding Domain Is Associated With Ankyrin-B Syndrome and Structural Heart Disease in a First Nations Population With a High Rate of Long QT Syndrome [J].

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