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Genotype- vs Phenotype-Guided Approaches to Improve ATTR Detection.

作者信息

Regan Jessica A, Fontana Marianna, Selvaraj Senthil

机构信息

Division of Cardiology, Duke University School of Medicine, Durham, North Carolina.

Duke Molecular Physiology Institute, Duke University School of Medicine, Durham, North Carolina.

出版信息

JAMA Cardiol. 2024 Nov 1;9(11):957-959. doi: 10.1001/jamacardio.2024.2654.

DOI:10.1001/jamacardio.2024.2654
PMID:39196584
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12139529/
Abstract
摘要

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JAMA Cardiol. 2024 Nov 1;9(11):964-972. doi: 10.1001/jamacardio.2024.2190.
2
Cardiovascular Burden of the V142I Transthyretin Variant.载脂蛋白 V142I 变异的心血管负担。
JAMA. 2024 Jun 4;331(21):1824-1833. doi: 10.1001/jama.2024.4467.
3
Actionable Genotypes and Their Association with Life Span in Iceland.冰岛具有可操作基因型与寿命的关联分析。
N Engl J Med. 2023 Nov 9;389(19):1741-1752. doi: 10.1056/NEJMoa2300792.
4
Age Dependency of Cardiovascular Outcomes With the Amyloidogenic pV142I Transthyretin Variant Among Black Individuals in the US.美国黑人群体中淀粉样变 pV142I 转甲状腺素变体的心血管结局的年龄依赖性。
JAMA Cardiol. 2023 Aug 1;8(8):784-788. doi: 10.1001/jamacardio.2023.1525.
5
Design and Rationale the SCAN-MP (Screening for Cardiac Amyloidosis With Nuclear Imaging in Minority Populations) Study.SCAN-MP（少数民族人群核医学心肌淀粉样变筛查研究）的设计和原理。
J Am Heart Assoc. 2023 Apr 18;12(8):e028534. doi: 10.1161/JAHA.122.028534. Epub 2023 Apr 17.
6
RNA-targeting and gene editing therapies for transthyretin amyloidosis.针对转甲状腺素蛋白淀粉样变性的 RNA 靶向和基因编辑疗法。
Nat Rev Cardiol. 2022 Oct;19(10):655-667. doi: 10.1038/s41569-022-00683-z. Epub 2022 Mar 23.
7
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