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 <span class="gene" id="10952765-2-65-77">LDL receptor</span> (<span class="gene" id="10952765-2-79-83">LDLR</span>) and few specific mutations in the apolipoprotein B (APOB) gene resulting in <span class="disease" id="10952765-2-161-191">familial hypercholesterolaemia</span> and familial defective apoB-100 respectively.