Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia.
Rimbert A, Vanhoye X, Coulibaly D, Marrec M, Pichelin M, Charrière S, Peretti N, Valéro R, Wargny M, Carrié A, Lindenbaum P, Deleuze JF, Genin E, Redon R, Rollat-Farnier PA, Goxe D, Degraef G, Marmontel O, Divry E, Bigot-Corbel E, Moulin P, Cariou B, Di Filippo M.
Rimbert A, et al.
Arterioscler Thromb Vasc Biol. 2021 Jan;41(1):e63-e71. doi: 10.1161/ATVBAHA.120.315491. Epub 2020 Nov 19.
Arterioscler Thromb Vasc Biol. 2021.
PMID: 33207932
Free article.
Primary hypobetalipoproteinemia mostly results from heterozygous mutations in the APOB (apolipoprotein B) and PCSK9 genes, and a polygenic origin is hypothesized in the remaining cases. ...Patients with monogenic hypobetalipoproteinemia had lower LDL-C and apolipoprotein …
Primary hypobetalipoproteinemia mostly results from heterozygous mutations in the APOB (apolipoprotein B) and PCSK9 genes, and a poly …