Article
Familial hypobetalipoproteinemia: analysis of three Spanish cases with two new mutations in the APOB gene.
Gene - 15 Nov 2013
Martín-Morales R, García-Díaz J D, Tarugi P, González-Santos P, Saavedra-Vallejo P, Magnolo L, Mesa-Latorre J M, di Leo E, Valdivielso P
Abstract excerpt
Extremely low LDL-cholesterol concentrations are very unusual and generally related with comorbidities accompanying malnutrition. Less frequently low LDL-cholesterol levels result from mutations in the APOB, PCSK9, ANGPTL3, SAR1B and MTTP genes (primary hypobetalipoproteinemia). We investigated three patients with plasma LDL-cholesterol levels below the fifth percentile of the Spanish population. We recorded data...
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