What is Hypercholesterolemia due to arg3500 mutation of Apo B-100?
• Hypercholesterolemia due to arg3500 mutation of Apo B-100: A rare disorder where a defect in the protein that transports cholesterol (apolipoprotein B-100) means that it builds up in the blood and blood vessels where it can cause problems. Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Hypercholesterolemia due to arg3500 mutation of Apo B-100 as a “rare disease”.
Related Questions
- Why does a mutation that deletes one or two DNA nucleotides changes gene function more drastically than a substitution of one nucleotide for another type?
- What type of mutation could result from a deletion of a single nucleotide from the DNA sequence?
- What Familial hypercholesterolemia is a metabolic disorder that is caused by a mutation on?
