Genetic defects causing familial hypercholesterolaemia: Identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic-Reference-Cited by-同舟云学术

Genetic defects causing familial hypercholesterolaemia: Identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic

Published:2007-09 Issue:1 Volume:194 Page:102-111
ISSN:0021-9150
Container-title:Atherosclerosis
language:en
Short-container-title:Atherosclerosis

Author:

Tosi Isabella,Toledo-Leiva Paola,Neuwirth Clare,Naoumova Rossi P.,Soutar Anne K.

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine

Reference31 articles.

1. Familial hypercholesterolemia;Goldstein,2001

2. Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia;Sun;Hum Mol Genet,2005

3. Rearrangements in the LDL receptor gene in Dutch familial hypercholesterolemic patients and the presence of a common 4kb deletion;Top;Atherosclerosis,1990

4. Characterization of three mutations of the low density lipoprotein receptor gene in Italian patients with familial hypercholesterolemia;Lelli;Arterioscler Thromb,1991

5. Prevalence and geographical distribution of major LDL receptor gene rearrangements in Finland;Aalto-Setala;J Intern Med,1992

Cited by 71 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. Familial communication and cascade testing following elective genomic testing;Journal of Genetic Counseling;2024-05-16

2. Genetic Testing for Familial Hypercholesterolemia in a Pediatric Group: A Romanian Showcase;Diagnostics;2023-06-07

3. Polymorphisms of rs2483205 and rs562556 in the PCSK9 gene are associated with coronary artery disease and cardiovascular risk factors;Scientific Reports;2021-06-01

4. Molecular Genetic Approach and Evaluation of Cardiovascular Events in Patients with Clinical Familial Hypercholesterolemia Phenotype from Romania;Journal of Clinical Medicine;2021-03-31

5. Proprotein Convertase Subtilisin/Kexin Type 9 Gene Variants in Familial Hypercholesterolemia: A Systematic Review and Meta-Analysis;Processes;2021-02-02