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Pathology Cytogenetic Disorders 1c115e3a

Which of the following conditions is due to membrane receptor defect?

A
Beta thalassemia
B
Familial hypercholesterolemia
C
HSP
D
Sickle cell disease
High-Yield Explanation
Ans: B (Familial hypercholesterolemia) Ref: Robbins Pathologic Basis of Disease, 8th editionExplanation:Familial hypercholesterolemiaPathology: Mutations in the LDLR gene that encodes the LDL receptor protein, which normally removes LDL from the circulation, or apolipoprotein B (Apob), which is the part of LDL that hinds with the receptor. (See Table 9)

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