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Targeted Panel Sequencing will Boost Detection of Genetic Backgrounds of Familial Hypercholesterolemia in the World's Most Populous Country.

作者信息

Tada Hayato, Takamura Masayuki, Kawashiri Masa-Aki

机构信息

Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences.

出版信息

J Atheroscler Thromb. 2020 Dec 1;27(12):1261-1263. doi: 10.5551/jat.ED139. Epub 2020 Aug 15.

DOI:10.5551/jat.ED139
PMID:32801290
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7840167/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7736/7840167/a79330286e79/jat-27-1261-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7736/7840167/a79330286e79/jat-27-1261-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7736/7840167/a79330286e79/jat-27-1261-g001.jpg

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本文引用的文献

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Targeted Genetic Analysis in a Chinese Cohort of 208 Patients Related to Familial Hypercholesterolemia.中国 208 例家族性高胆固醇血症患者的靶向基因分析。
J Atheroscler Thromb. 2020 Dec 1;27(12):1288-1298. doi: 10.5551/jat.54593. Epub 2020 Aug 6.
2
Prevalence of Familial Hypercholesterolemia Among the General Population and Patients With Atherosclerotic Cardiovascular Disease: A Systematic Review and Meta-Analysis.家族性高胆固醇血症在普通人群和动脉粥样硬化性心血管疾病患者中的患病率：系统评价和荟萃分析。
Circulation. 2020 Jun 2;141(22):1742-1759. doi: 10.1161/CIRCULATIONAHA.119.044795. Epub 2020 May 29.
3
Worldwide Prevalence of Familial Hypercholesterolemia: Meta-Analyses of 11 Million Subjects.
全球家族性高胆固醇血症患病率的Meta 分析：1100 万例患者研究
J Am Coll Cardiol. 2020 May 26;75(20):2553-2566. doi: 10.1016/j.jacc.2020.03.057.
4
A catalog of the pathogenic mutations of LDL receptor gene in Japanese familial hypercholesterolemia.日本家族性高胆固醇血症中低密度脂蛋白受体基因的致病突变目录。
J Clin Lipidol. 2020 May-Jun;14(3):346-351.e9. doi: 10.1016/j.jacl.2020.03.002. Epub 2020 Mar 24.
5
Monogenic, polygenic, and oligogenic familial hypercholesterolemia.单基因、多基因和寡基因家族性高胆固醇血症。
Curr Opin Lipidol. 2019 Aug;30(4):300-306. doi: 10.1097/QCO.0000000000000563.
6
Guidelines for Diagnosis and Treatment of Familial Hypercholesterolemia 2017.2017 年家族性高胆固醇血症诊断与治疗指南
J Atheroscler Thromb. 2018 Aug 1;25(8):751-770. doi: 10.5551/jat.CR003. Epub 2018 Jun 7.
7
Half a Century Tales of Familial Hypercholesterolemia (FH) in Japan.日本半个世纪的家族性高胆固醇血症（FH）故事。
J Atheroscler Thromb. 2017 Mar 1;24(3):189-207. doi: 10.5551/jat.RV16008. Epub 2017 Feb 8.
8
Impact of clinical signs and genetic diagnosis of familial hypercholesterolaemia on the prevalence of coronary artery disease in patients with severe hypercholesterolaemia.家族性高胆固醇血症的临床特征和基因诊断对严重高胆固醇血症患者冠心病患病率的影响。
Eur Heart J. 2017 May 21;38(20):1573-1579. doi: 10.1093/eurheartj/ehx004.
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Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.家族性高胆固醇血症在普通人群中漏诊和治疗不足：预防冠心病的临床医生指南：欧洲动脉粥样硬化学会共识声明。
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Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan.日本北陆地区家族性高胆固醇血症纯合子的分子遗传流行病学研究。
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