A DNA Microarray for the Detection of Point Mutations and Copy Number Variation Causing Familial Hypercholesterolemia in Europe-Reference-Cited by-同舟云学术

A DNA Microarray for the Detection of Point Mutations and Copy Number Variation Causing Familial Hypercholesterolemia in Europe

Published:2013-05 Issue:3 Volume:15 Page:362-372
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Stef Marianne A.,Palacios Lourdes,Olano-Martín Estibaliz,Foe-A-Man Carolyn,van de Kerkhof Laura,Klaaijsen Lisette N.,Molano Araitz,Schuurman Ellen J.,Tejedor Diego,Defesche Joep C.

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference32 articles.

1. Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database;Leigh;Ann Hum Genet,2008

2. Familial hypercholesterolemia. The Metabolic and Molecular Basis of Inherited Disease;Goldstein,2001

3. The molecular mechanism for the genetic disorder familial defective apolipoprotein B100;Boren;J Biol Chem,2001

4. Familial defective apolipoprotein B-100 is clinically indistinguishable from familial hypercholesterolemia;Defesche;Arch Intern Med,1993

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

Cited by 17 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. Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia;Circulation: Genomic and Precision Medicine;2023-10

2. Diferencias clínicas y genéticas de los pacientes con hipercolesterolemia familiar heterocigota con y sin diabetes mellitus tipo 2;Revista Española de Cardiología;2020-09

3. Clinical and genetic differences between heterozygous familial hypercholesterolemia patients with and without type 2 diabetes;Revista Española de Cardiología (English Edition);2020-09

4. Cholesterol oversynthesis markers define familial combined hyperlipidemia versus other genetic hypercholesterolemias independently of body weight;The Journal of Nutritional Biochemistry;2018-03

5. Association between non-cholesterol sterol concentrations and Achilles tendon thickness in patients with genetic familial hypercholesterolemia;Journal of Translational Medicine;2018-01-15