Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia

Abetalipoproteinemia (ABL) is an inherited disease characterized by the defective assembly and secretion of apolipoprotein B–containing lipoproteins caused by mutations in the microsomal triglyceride transfer protein large subunit (MTP) gene (MTTP). We report here a female patient with an unusual cl...

Full description

Bibliographic Details

Published in:	Journal of Lipid Research
Main Authors:	Mathilde Di Filippo, Hervé Créhalet, Marie Elisabeth Samson-Bouma, Véronique Bonnet, Lawrence P. Aggerbeck, Jean-Pierre Rabès, Frederic Gottrand, Gérald Luc, Dominique Bozon, Agnès Sassolas
Format:	Article
Language:	English
Published:	Elsevier 2012-03-01
Subjects:	dyslipidemias familial hypocholesterolemia chylomicrons lipoprotein/assembly hepatosteatosis genetics
Online Access:	http://www.sciencedirect.com/science/article/pii/S0022227520413707