Familial defective apolipoprotein B-100: molecular basis, prevalence and clinical features.

Article

Familial defective apolipoprotein B-100: molecular basis, prevalence and clinical features.

Wiener klinische Wochenschrift - 1 Jan 1991

Friedl W

Abstract excerpt

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...

Topics

Alleles
Apolipoprotein B-100
Apolipoproteins B
Cholesterol, LDL
Gene Frequency
Humans
Hyperlipoproteinemia Type II
Pedigree
Risk Factors

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.