Multiple Ligation-dependent Probe Amplification Along with Whole Exome Sequencing Should be Required for the Diagnosis of Structural Heterozygous Familial Hypercholesteremia.
作者信息
Saotome Masao, Maekawa Yuichiro
机构信息
Division of Cardiology, Internal Medicine III Hamamatsu University School of Medicine, Japan.
出版信息
Intern Med. 2022;61(19):2829-2830. doi: 10.2169/internalmedicine.9412-22. Epub 2022 Oct 1.
Abstract
摘要
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本文引用的文献
1
Whole Exome Sequencing Insufficient for a Definitive Diagnosis of a Patient with Compound Heterozygous Familial Hypercholesterolemia.
Intern Med. 2022;61(19):2883-2889. doi: 10.2169/internalmedicine.8989-21. Epub 2022 Oct 1.
2
Diagnosis and Treatment of Heterozygous Familial Hypercholesterolemia.
J Am Heart Assoc. 2019 Dec 17;8(24):e013225. doi: 10.1161/JAHA.119.013225. Epub 2019 Dec 16.
3
Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing.
Genet Med. 2019 Jul;21(7):1603-1610. doi: 10.1038/s41436-018-0397-6. Epub 2018 Dec 19.
4
Guidelines for Diagnosis and Treatment of Familial Hypercholesterolemia 2017.
J Atheroscler Thromb. 2018 Aug 1;25(8):751-770. doi: 10.5551/jat.CR003. Epub 2018 Jun 7.
5
Familial Hypercholesterolemia: A Systematic Review of Guidelines on Genetic Testing and Patient Management.
Front Public Health. 2017 Sep 25;5:252. doi: 10.3389/fpubh.2017.00252. eCollection 2017.
6
Use of next-generation sequencing to detect gene copy number variation in familial hypercholesterolemia.
J Lipid Res. 2017 Nov;58(11):2202-2209. doi: 10.1194/jlr.D079301. Epub 2017 Sep 5.
7
Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan.
Atherosclerosis. 2011 Feb;214(2):404-7. doi: 10.1016/j.atherosclerosis.2010.11.005. Epub 2010 Nov 13.
8
Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia.
J Lipid Res. 2005 Feb;46(2):366-72. doi: 10.1194/jlr.D400030-JLR200. Epub 2004 Dec 1.
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