title: Familial defective apolipoprotein B-100: molecular basis, prevalence and clinical features.
abstract: Familial defective apo B-100 is an autosomal dominant trait which causes moderate to severe elevation of LDL-cholesterol in the plasma and may predispose the coronary heart disease. The primary defect is a single amino acid change (Arg3500 to Gln), which disrupts the normal binding of LDL to the LDL-receptor. The mutation occurs at an estimated frequency of 1/600 in the normal population and is, therefore one of the most common known single-gene defects causing an inherited abnormality.
authors.affiliation: First Department of Medicine, Landeskrankenanstalten Salzburg.
authors.forename: W
authors.initials: W
authors.lastname: Friedl
mesh_terms: D000483:Alleles; D053299:Apolipoprotein B-100; D001055:Apolipoproteins B / Q000097:blood / Q000235:genetics*; D008078:Cholesterol, LDL / Q000097:blood / Q000235:genetics*; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000235:genetics*; D010375:Pedigree; D012307:Risk Factors
chemical_list: D053299:Apolipoprotein B-100; D001055:Apolipoproteins B; D008078:Cholesterol, LDL