Functional analysis of the p.(Leu15Pro) and p.(Gly20Arg) sequence changes in the signal sequence of LDL receptor-Reference-Cited by-同舟云学术

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Functional analysis of the p.(Leu15Pro) and p.(Gly20Arg) sequence changes in the signal sequence of LDL receptor

Published:2016-07 Issue: Volume:250 Page:9-14
ISSN:0021-9150
Container-title:Atherosclerosis
language:en
Short-container-title:Atherosclerosis

Author:

Pavloušková Jana,Réblová Kamila,Tichý Lukáš,Freiberger Tomáš^ORCID,Fajkusová Lenka

Funder

Technology Agency of the Czech Republic

Ministry of Education, Youth, and Sports of the Czech Republic

Internal Grant Agency of the Ministry of Health of the Czech Republic

Ministry of Health of the Czech Republic

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine

Reference29 articles.

1. A Receptor-mediated pathway for cholesterol homeostasis;Brown;Science,1986

2. Familial defective apolipoprotein-B-100-A mutation of apolipoprotein-B that causes hypercholesterolemia;Innerarity;J. Lipid Res.,1990

3. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia;Abifadel;Nat. Genet.,2003

4. Familial hypercholesterolemia in the Danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication;Benn;J. Clin. Endocrinol. Metab.,2012

5. Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome;Sjouke;Eur. Heart J.,2015

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