Types of mutations and their impact on protein function Today's ...
Types of mutations and their impact on protein function Today's ...
Types of mutations and their impact on protein function Today's ...
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Haploinsufficiency:<br />
Familial Hypercholesterolemia (FH; high cholesterol)<br />
can result from having <strong>on</strong>ly <strong>on</strong>e good copy <str<strong>on</strong>g>of</str<strong>on</strong>g> the<br />
LDL uptake from blood<br />
LDL receptor gene<br />
LDL (low density<br />
lipo<strong>protein</strong>) particle<br />
Lots <str<strong>on</strong>g>of</str<strong>on</strong>g> different <str<strong>on</strong>g>mutati<strong>on</strong>s</str<strong>on</strong>g> cause dominant<br />
familial hypercholesterolemia (FH)<br />
by disrupting LDL receptor functi<strong>on</strong><br />
22