In vitro functional characterization of splicing variants of the APOB gene found in familial hypobetalipoproteinemia
Abstract
Familial hypobetalipoproteinemia type 1 (FHBL-1) is a codominant disorder characterized by greatly reduced plasma levels of total cholesterol, low-density lipoprotein cholesterol, and apolipoprotein B. Rare exonic pathogenic variants of APOB gene (nonsense variants, minute deletions/insertions and nonsynonymous variants) have been frequently reported in subjects with FHBL-1. Also, rare intronic variants of APOB located at intron/exon junctions...
Paper Details
Title
In vitro functional characterization of splicing variants of the APOB gene found in familial hypobetalipoproteinemia
Published Date
Nov 1, 2019
Volume
13
Issue
6
Pages
960 - 969
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