Multiple Ligation-dependent Probe Amplification Along with Whole Exome Sequencing Should be Required for the Diagnosis of Structural Heterozygous Familial Hypercholesteremia
Author:
Affiliation:
1. Division of Cardiology, Internal Medicine III Hamamatsu University School of Medicine, Japan
Publisher
Japanese Society of Internal Medicine
Subject
General Medicine,Internal Medicine
Link
https://www.jstage.jst.go.jp/article/internalmedicine/61/19/61_9412-22/_pdf
Reference8 articles.
1. 1. Mabuchi H, Nohara A, Noguchi T, et al. Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan. Atherosclerosis 214: 404-407, 2011.
2. 2. Harada-Shiba M, Arai H, Ishigaki Y, et al. Guidelines for diagnosis and treatment of familial hypercholesterolemia 2017. J Atheroscler Thromb 25: 751-770, 2018.
3. 3. McGowan MP, Hosseini Dehkordi SH, Moriarty PM, Duell PB. Diagnosis and treatment of heterozygous familial hypercholesterolemia. J Am Heart Assoc 8: e013225, 2019.
4. 4. Migliara G, Baccolini V, Rosso A, et al. Familial hypercholesterolemia: a systematic review of guidelines on genetic testing and patient management. Front Public Health 5: 252, 2017.
5. 5. Wang J, Ban MR, Hegele RA. Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia. J Lipid Res 46: 366-372, 2005.
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