Whole Exome Sequencing Insufficient for a Definitive Diagnosis of a Patient with Compound Heterozygous Familial Hypercholesterolemia-Reference-Cited by-同舟云学术

Whole Exome Sequencing Insufficient for a Definitive Diagnosis of a Patient with Compound Heterozygous Familial Hypercholesterolemia

Published:2022-10-01 Issue:19 Volume:61 Page:2883-2889
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Okada Hirofumi¹,Tada Hayato¹,Nomura Akihiro¹,Nohara Atsushi²,Okeie Kazuyasu³,Nozue Tsuyoshi⁴,Michishita Ichiro⁴,Takamura Masayuki¹,Takemura Hirofumi⁵,Kawashiri Masa-aki¹

Affiliation:

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

2. Department of Genetics, Ishikawa Prefectural Central Hospital, Japan

3. Department of Cardiology, Koseiren Takaoka Hospital, Japan

4. Division of Cardiology, Department of Internal Medicine, Yokohama Sakae Kyosai Hospital, Japan

5. Department of Cardiovascular Surgery, Kanazawa University, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/61/19/61_8989-21/_pdf

Reference16 articles.

1. 1. Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: The Metabolic and Molecular Bases of Inherited Disease. Vol 2. 8th ed. Scriver CR, Beaudet AL, Sly WS, Valle D, Eds. McGraw-Hill, New York, 2001: 2863-2913.

2. 2. Okada H, Tada H, Hayashi K, et al. Aortic root calcification score as an independent factor for predicting major adverse cardiac events in familial hypercholesterolemia. J Atheroscler Thromb 25: 634-642, 2018.

3. 3. Awan Z, Alrasadi K, Francis GA, et al. Vascular calcifications in homozygote familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 28: 777-785, 2008.

4. 4. Kakuta T, Fujita T, Fukushima S, et al. Two cases of surgical management of supravalvular aortic stenosis in familial hypercholesterolemia. Ann Thorac Surg 105: e171-e174, 2018.

5. 5. Tada H, Kawashiri MA, Nomura A, et al. Oligogenic familial hypercholesterolemia, LDL cholesterol, and coronary artery disease. J Clin Lipidol 12: 1436-1444, 2018.

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical Characteristics of Homozygous Familial Hypercholesterolemia in Japan;JACC: Asia;2023-12

2. Multiple Ligation-dependent Probe Amplification Along with Whole Exome Sequencing Should be Required for the Diagnosis of Structural Heterozygous Familial Hypercholesteremia;Internal Medicine;2022-10-01