Cryptogenic cirrhosis in a patient with familial hypocholesterolemia due to a new truncated form of apolipoprotein B

Abstract excerpt

Familial hypobetalipoproteinemia (FHBL) is an autosomal codominantly inherited disorder of lipoprotein metabolism characterized by decreased concentrations of low-density lipoprotein-cholesterol and of apolipoprotein B (apoB). Mutations of APOB gene lead to the formation of truncated forms of apoB. The study aimed at determining the truncated form of apoB responsible for FHBL associated with liver cirrhosis in a...

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