familial hypercholesterolemia
A "de novo" mutation of the LDL-receptor gene as the cause of familial hypercholesterolemia.
A "de novo" mutation of the <span class="gene" id="12009418-0-28-40">LDL-receptor</span> gene as the cause of <span class="disease" id="12009418-0-62-91">familial hypercholesterolemia</span>.