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Novel trans-2,3-enoyl-CoA reductase-like variant associated with catecholaminergic polymorphic ventricular tachycardia type 3.

作者信息

Charafeddine Fatme, Assaf Nada, Ismail Ali, Bulbul Ziad

机构信息

Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

Department of Pathology and Lab Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

出版信息

HeartRhythm Case Rep. 2022 Dec 20;9(3):171-177. doi: 10.1016/j.hrcr.2022.12.013. eCollection 2023 Mar.

DOI:10.1016/j.hrcr.2022.12.013
PMID:36970382
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10030308/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f484/10030308/d23cb19f30cf/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f484/10030308/6be0225d7e71/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f484/10030308/023567f2ee20/gr2ab.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f484/10030308/d23cb19f30cf/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f484/10030308/6be0225d7e71/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f484/10030308/023567f2ee20/gr2ab.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f484/10030308/d23cb19f30cf/gr3.jpg

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本文引用的文献

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2
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Circulation. 2020 Sep 8;142(10):932-947. doi: 10.1161/CIRCULATIONAHA.120.045723. Epub 2020 Jul 22.
3
Novel variants in TECRL cause recessive inherited CPVT type 3 with severe and variable clinical symptoms.
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