Article
Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene.
Diagnostic pathology - 4 Apr 2013
Najah Mohamed, Youssef Sarraj Mohamed, Yahia Hrira Mohamed, Afef Slimani, Awatef Jelassi, Saber Hammami, Fadhel Najjar Mohamed, Sassolas Agnès, Naceur Slimane Mohamed
Abstract excerpt
BACKGROUND: Abetalipoproteinemia (ABL; OMIM 200100) is a rare monogenic disorder of lipid metabolism characterized by reduced plasma levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and almost complete absence of apolipoprotein B (apoB). ABL results from genetic deficiency in microsomal triglyceride transfer protein (MTP; OMIM 157147). In the present study we investigated two...
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