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Genetic Testing in Familial Hypercholesterolemia: Strengthening the Tools, Reinforcing Efforts, and Diagnosis.

作者信息

Abifadel Marianne S, Rabès Jean-Pierre H, Boileau Catherine R

机构信息

Laboratory for Vascular Translational Science, INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat, Université de Paris, Paris, France.

Laboratory of Biochemistry and Molecular Therapeutics, Faculty of Pharmacy, Pôle Technologie-Santé, Saint Joseph University of Beirut, Beirut, Lebanon.

出版信息

JACC Basic Transl Sci. 2021 Nov 22;6(11):831-833. doi: 10.1016/j.jacbts.2021.10.004. eCollection 2021 Nov.

DOI:10.1016/j.jacbts.2021.10.004
PMID:34869946
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8617568/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c6e1/8617568/0c97bd966b06/fx1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c6e1/8617568/0c97bd966b06/fx1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c6e1/8617568/0c97bd966b06/fx1.jpg

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J Intern Med. 2023 Feb;293(2):144-165. doi: 10.1111/joim.13577. Epub 2022 Oct 17.
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Etiologic Puzzle of Coronary Artery Disease: How Important Is Genetic Component?

本文引用的文献

1
MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of Missense Variants.MLb-LDLr:一种预测错义变异致病性的机器学习模型。
JACC Basic Transl Sci. 2021 Nov 22;6(11):815-827. doi: 10.1016/j.jacbts.2021.08.009. eCollection 2021 Nov.
2
Genetic testing in dyslipidemia: A scientific statement from the National Lipid Association.血脂异常的基因检测:国家脂质协会的科学声明。
J Clin Lipidol. 2020 Jul-Aug;14(4):398-413. doi: 10.1016/j.jacl.2020.04.011. Epub 2020 May 7.
3
The role of genetic testing in dyslipidaemia.
冠状动脉疾病的病因之谜:遗传因素有多重要?
Life (Basel). 2022 Jun 9;12(6):865. doi: 10.3390/life12060865.
基因检测在血脂异常中的作用。
Pathology. 2019 Feb;51(2):184-192. doi: 10.1016/j.pathol.2018.10.014. Epub 2018 Dec 14.
4
ClinVar database of global familial hypercholesterolemia-associated DNA variants.ClinVar 数据库中的全球家族性高胆固醇血症相关 DNA 变异。
Hum Mutat. 2018 Nov;39(11):1631-1640. doi: 10.1002/humu.23634.
5
Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel.家族性高胆固醇血症的临床基因检测:美国心脏病学会科学专家组。
J Am Coll Cardiol. 2018 Aug 7;72(6):662-680. doi: 10.1016/j.jacc.2018.05.044.