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Molecular screening of familial hypercholesterolemia in Icelanders
- Source :
- Scandinavian journal of clinical and laboratory investigation. 80(6)
- Publication Year :
- 2020
-
Abstract
- Familial hypercholesterolemia (FH) is a monogenic disease characterized by a lifelong exposure to high LDL-C levels that can lead to early onset coronary heart disease (CHD). The main causes of FH identified to date include loss-of-function mutations in
- Subjects :
- 0301 basic medicine
Pediatrics
medicine.medical_specialty
Clinical Biochemistry
Iceland
Familial hypercholesterolemia
030204 cardiovascular system & hematology
Monogenic disease
Hyperlipoproteinemia Type II
03 medical and health sciences
chemistry.chemical_compound
0302 clinical medicine
Loss of Function Mutation
Medicine
Humans
Genetic Predisposition to Disease
Genetic Testing
Prospective Studies
Early onset
Genetic testing
Molecular screening
medicine.diagnostic_test
business.industry
Cholesterol
food and beverages
High-Throughput Nucleotide Sequencing
General Medicine
medicine.disease
Coronary heart disease
030104 developmental biology
chemistry
Mutation
lipids (amino acids, peptides, and proteins)
business
Subjects
Details
- ISSN :
- 15027686
- Volume :
- 80
- Issue :
- 6
- Database :
- OpenAIRE
- Journal :
- Scandinavian journal of clinical and laboratory investigation
- Accession number :
- edsair.doi.dedup.....8d87d94594d216d86ac35e3af4636fbe