Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemia-Reference-Cited by-同舟云学术

Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemia

Published:2018-10 Issue: Volume:277 Page:448-456
ISSN:0021-9150
Container-title:Atherosclerosis
language:en
Short-container-title:Atherosclerosis

Author:

Alves Ana Catarina,Benito-Vicente Asier,Medeiros Ana Margarida,Reeves Kaajal,Martin Cesar,Bourbon Mafalda

Funder

Portuguese Science and Technology Foundation

Spanish Ministry of Economy and Competitiveness

Basque Government

PIF

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine

Reference49 articles.

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

2. Diagnostic yield and clinical utility of sequencing familial hypercholesterolemia genes in patients with severe hypercholesterolemia;Khera;J. Am. Coll. Cardiol.,2016

3. Hypobetalipoproteinemia and abetalipoproteinemia;Welty;Curr. Opin. Lipidol.,2014

4. Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis;Chora;Genet. Med.,2017

5. Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolaemia;Myant;Atherosclerosis,1993

Cited by 25 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. Consensus document on diagnosis and management of familial hypercholesterolemia from the Italian Society for the Study of Atherosclerosis (SISA);Nutrition, Metabolism and Cardiovascular Diseases;2024-08

2. Likelihood of a novel pathogenic LDLR mutant allele inherited preferentially within an Indian family with familial hypercholesterolemia;2024-03-13

3. Screening and verifying the mutations in the LDLR and APOB genes in a Chinese family with familial hypercholesterolemia;Lipids in Health and Disease;2023-10-18

4. Genetic backgrounds and diagnosis of familial hypercholesterolemia;Clinical Genetics;2023-10-17

5. Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing;Gene;2023-07