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    Subjects/Biochemistry/Lipoprotein Metabolism and Dyslipidemias
    Lipoprotein Metabolism and Dyslipidemias
    hard
    flask-conical Biochemistry

    A 38-year-old woman from Mumbai presents with recurrent corneal opacities, hepatosplenomegaly, and progressive neurological decline over 2 years. Lipid profile shows total cholesterol 420 mg/dL, LDL 380 mg/dL, HDL 18 mg/dL, and triglycerides 95 mg/dL. Serum apolipoprotein B is markedly elevated. Genetic testing reveals a homozygous mutation in the LDLR gene. What is the primary mechanism of dyslipidemia in this patient?

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