Titin Truncating Variants in Adults Without Known Congestive Heart Failure.
作者信息
Pirruccello James P, Bick Alexander, Chaffin Mark, Aragam Krishna G, Choi Seung Hoan, Lubitz Steven A, Ho Carolyn Y, Ng Kenney, Philippakis Anthony, Ellinor Patrick T, Kathiresan Sekar, Khera Amit V
出版信息
J Am Coll Cardiol. 2020 Mar 17;75(10):1239-1241. doi: 10.1016/j.jacc.2020.01.013.
Abstract
摘要
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本文引用的文献
1
Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants.基于基因组优先的策略评估与截断性肌联蛋白变异相关的心脏病。
Circulation. 2019 Jul 2;140(1):42-54. doi: 10.1161/CIRCULATIONAHA.119.039573. Epub 2019 Jun 20.
2
Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation.肌联蛋白功能丧失变异与早发性心房颤动的关联。
JAMA. 2018 Dec 11;320(22):2354-2364. doi: 10.1001/jama.2018.18179.
3
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.健康与疾病状态下肌联蛋白截短对心脏影响的等位基因、转录组及表型组综合剖析
Sci Transl Med. 2015 Jan 14;7(270):270ra6. doi: 10.1126/scitranslmed.3010134.
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