This is a real-world medical entrance exam question, please give the true answer based on the question and selection. Topic name: Cytogenetic Disorders, Subject name: Pathology
Which of the following conditions is due to membrane receptor defect? 
Select and explain. 
A. Beta thalassemia, B. Familial hypercholesterolemia, C. HSP, D. Sickle cell disease
B: Familial hypercholesterolemia
Answer: B: Familial hypercholesterolemia 
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)