Detection of the benign c.2579C>T (p.A860V) variant of the LDLR gene in a pedigree-based genetic analysis of familial hypercholesterolemia-Reference-Cited by-同舟云学术

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Detection of the benign c.2579C>T (p.A860V) variant of the LDLR gene in a pedigree-based genetic analysis of familial hypercholesterolemia

Published:2019-03 Issue:2 Volume:13 Page:335-339
ISSN:1933-2874
Container-title:Journal of Clinical Lipidology
language:en
Short-container-title:Journal of Clinical Lipidology

Author:

Hori Mika^ORCID,Miyauchi Eiji,Son Cheol,Harada-Shiba Mariko

Funder

Ministry of Health, Labor and Welfare

JSPS

Japan Agency for Medical Research and Development

Takeda Science Foundation

Kanae Foundation for the Promotion of Medical Science

Japanese Circulation Society

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine,Nutrition and Dietetics,Endocrinology, Diabetes and Metabolism,Internal Medicine

Reference14 articles.

1. Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the hokuriku district of japan;Mabuchi;Atherosclerosis,2011

2. 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;Nordestgaard;Eur Heart J,2013

3. Expression of the familial hypercholesterolemia gene in heterozygotes: mechanism for a dominant disorder in man;Brown;Science,1974

4. Familial defective apolipoprotein b-100: low density lipoproteins with abnormal receptor binding;Innerarity;Proc Natl Acad Sci U S A,1987

5. Mutations in pcsk9 cause autosomal dominant hypercholesterolemia;Abifadel;Nat Genet,2003

Cited by 3 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. Severe Hypertriglyceridemia-Induced Acute Pancreatitis;Case Reports in Gastroenterology;2021-02-18

2. Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease;Nature Genetics;2020-10-05

3. Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients;Atherosclerosis;2019-10

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