In vitro functional characterization of splicing variants of the APOB gene found in familial hypobetalipoproteinemia

• Published in: Journal of clinical lipidology Vol. 13; no. 6; pp. 960 - 969
• Main Authors: Rabacchi, Claudio, Simone, Maria Luisa, Pisciotta, Livia, Di Leo, Enza, Bocchi, Davide, Pietrangelo, Antonello, D'Addato, Sergio, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.11.2019
• Subjects: APOB gene; Familial hypobetalipoproteinemia; Splicing variants; Truncated apoBs; Truncated apoBs; Familial hypobetalipoproteinemia; Splicing variants; APOB gene

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 n...