Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia.


The apoB arginine-to glutamine change at codon 3500 has become established as a cause of failure of binding of the LDL particle to its receptor and the consequent hypercholesterolemia of familial defective apoB 100. A search for further similar mutations was undertaken by systematic screening of a candidate region of the apoB gene from individuals with… (More)


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