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What is A patient was found to have high LDL, increased total cholesterol. But normal levels of LDL-Receptors. What is the most probable cause: and explain in detail?
This is Familial defective Apo B100, also known as Autosomal Dominant Hypercholesterolemia IIa. There is a mutation in the gene encoding Apo B100, specifically in LDL-receptor binding domain of Apo B100.