Recent advances in genetic testing for familial hypercholesterolemia
Author:
Affiliation:
1. Departments of Medicine and Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Canada
Funder
Canadian Institutes of Health Research
Heart and Stroke Foundation of Canada
Genome Canada through Genome Quebec
Publisher
Informa UK Limited
Subject
Genetics,Molecular Biology,Molecular Medicine,Pathology and Forensic Medicine
Link
https://www.tandfonline.com/doi/pdf/10.1080/14737159.2017.1332997
Reference53 articles.
1. Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment
2. Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217
3. Genetic identification of familial hypercholesterolemia within a single U.S. health care system
4. 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
5. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society
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1. A Rapid and Scalable Multiplex PCR-Based Next-Generation Amplicon Sequencing Method for Familial Hypercholesterolemia Genetic Screening;The Journal of Applied Laboratory Medicine;2024-08-14
2. Generation of two familial hypercholesterolemia patient-specific induced pluripotent stem cell lines harboring heterozygous mutations in the LDLR gene;Stem Cell Research;2024-08
3. Genetic testing for familial hypercholesterolemia;Current Opinion in Lipidology;2024-02-01
4. Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype;Journal of Lipid Research;2024-02
5. Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia;Circulation: Genomic and Precision Medicine;2023-10
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