familial hypercholesterolaemia
Numerous different molecular defects have been identified in the LDL receptor (LDLR) and few specific mutations in the apolipoprotein B (APOB) gene resulting in familial hypercholesterolaemia and familial defective apoB-100 respectively.
Numerous different molecular defects have been identified in the LDL receptor (LDLR) and few specific mutations in the <span class="gene" id="10952765-2-119-135">apolipoprotein B</span> (<span class="gene" id="10952765-2-137-141">APOB</span>) gene resulting in <span class="disease" id="10952765-2-161-191">familial hypercholesterolaemia</span> and familial defective <span class="gene" id="10952765-2-215-223">apoB-100</span> respectively.