Review paper
Hypobetalipoproteinemia and abetalipoproteinemia
Abstract
Several mutations in the apoB, proprotein convertase subtilisin/kexin type 9 (PCSK9), and MTP genes result in low or absent levels of apoB and LDL-cholesterol in plasma, which cause familial hypobetalipoproteinemia and abetalipoproteinemia. Mutations in the ANGPTL3 gene cause familial combined hypolipidemia. Clinical manifestations range from none to severe, debilitating, and life-threatening disorders. This review summarizes recent genetic,...
Paper Details
Title
Hypobetalipoproteinemia and abetalipoproteinemia
Published Date
Jun 1, 2014
Volume
25
Issue
3
Pages
161 - 168
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