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familial ligand-defective apolipoprotein B-100
Pathology:
- disorder of lipoprotein metabolism
- increased risk of coronary artery disease
- impaired clearance of LDL particles by defective LDL receptors
Genetics:
- dominantly inherited
- associated with defects in APOB
Laboratory:
- serum cholesterol: hypercholesterolemia (very elevated)
General
lipid metabolism, inborn error; lipid storage disease; lipidosis
Database Correlations
OMIM 144010
References
OMIM :accession 144010