Homozygous familial hypobetalipoproteinemia: Two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature

Homozygous familial hypobetalipoproteinemia: Two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature

© 2015 Elsevier Ireland Ltd. Objective: Familial hypobetalipoproteinemia (FHBL) is autosomal codominant disorder of lipoprotein metabolism characterized by low plasma levels of total cholesterol (TC), low-density lipoprotein-cholesterol (LDL-C) and apolipoprotein B (apoB) below the 5 th percentile...

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Main Authors: Cefalù, A., Norata, Giuseppe, Ghiglioni, D., Noto, D., Uboldi, P., Garlaschelli, K., Baragetti, A., Spina, R., Valenti, V., Pederiva, C., Riva, E., Terracciano, L., Zoja, A., Grigore, L., Averna, M., Catapano, A.
Format: Journal Article
Published: Elsevier Ireland 2015
Online Access:http://hdl.handle.net/20.500.11937/55615

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