A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene-Reference-Cited by-同舟云学术

A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene

Published:2020-03-15 Issue:6 Volume:59 Page:783-787
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Tada Hayato¹,Okada Hirofumi¹,Nomura Akihiro¹,Nohara Atsushi¹,Takamura Masayuki¹,Kawashiri Masa-aki¹

Affiliation:

1. Department of Cardiology, Kanazawa University Graduate School of Medicine, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/59/6/59_3737-19/_pdf

Reference20 articles.

1. 1. Blanco-Vaca F, Martin-Campos JM, Beteta-Vicente Á, et al. Molecular analysis of APOB, SAR1B, ANGPTL3, and MTTP in patients with primary hypocholesterolemia in a clinical laboratory setting: evidence supporting polygenicity in mutation-negative patients. Atherosclerosis 283: 52-60, 2019.

2. 2. Peloso GM, Nomura A, Khera AV, et al. Rare protein-truncating variants in APOB, lower low-density lipoprotein cholesterol, and protection against coronary heart disease. Circ Genom Precis Med 12: e002376, 2019.

3. 3. Di Filippo M, Moulin P, Roy P, et al. Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia. J Hepatol 61: 891-902, 2014.

4. 4. Kawashiri MA, Tada H, Hashimoto M, et al. Extreme contrast of postprandial remnant-like particles formed in abetalipoproteinemia and homozygous familial hypobetalipoproteinemia. JIMD Rep 22: 85-94, 2015.

5. 5. Cuchel M, Meagher EA, du Toit Theron H, et al. Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, phase 3 study. Lancet 381: 40-46, 2013.

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