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What is Familial hypercholesterolemia is: and explain in detail?
Ans. A. Deficient LDL receptors(Ref: Harrison 19/e, Table356.3)Frederickson TypeNomenclatureMolecular DefectType IIaFamilial hypercholesterolemia (FH)LDL receptorFamilial defective Apo B (FDB)Apo B100Autosomal dominant hypercholesterolemia Type II (ADH Type II) Autosomal dominant hypercholesterolemia Type III (ADH Type III)PCS K9Autosomal recessive hypercholesterolemia (ARH)LDL receptor adapter protein (LDLRAP)SitosterolemiaABCG5 or ABCG8