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Biochemistry Lipoproteins fb98f0a2

A patient was found to have high LDL, increased total cholesterol. But normal levels of LDL-Receptors. What is the most probable cause:

A
Apo B100 mutation
B
Apo E defect
C
LCAT Deficiency
D
Lipoprotein lipase Deficiency
High-Yield Explanation
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.

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