<p>Hypobetalipoproteinemia is characterized by extremely low levels of low-density lipoprotein cholesterol. Familial hypobetalipoproteinemia (FHBL) is a monogenic form of hypobetalipoproteinemia caused by mutations in the APOB gene. There are cases of hypobetalipoproteinemia not caused by mutations in APOB, however. The purpose of this study is to identify novel genetic causes of hypobetalipoproteinemia.</p>

Metabolism and Genetics of Hypobetalipoproteinemia

1 selected publication including "Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidem..." (719 citations)

Metabolism and Genetics of Hypobetalipoproteinemia

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.