Article
Investigation of a nonsense mutation located in the complex KIV-2 copy number variation region of apolipoprotein(a) in 10,910 individuals.
Genome medicine - 21 Aug 2020
Di Maio Silvia, Grüneis Rebecca, Streiter Gertraud, Lamina Claudia, Maglione Manuel, Schoenherr Sebastian, Öfner Dietmar, Thorand Barbara, Peters Annette, Eckardt Kai-Uwe, Köttgen Anna, Kronenberg Florian, Coassin Stefan
Abstract excerpt
BACKGROUND: The concentrations of the highly atherogenic lipoprotein(a) [Lp(a)] are mainly genetically determined by the LPA gene locus. However, up to 70% of the coding sequence is located in the complex so-called kringle IV type 2 (KIV-2) copy number variation, a region hardly accessible by common genotyping and sequencing technologies. Despite its size, little is known about genetic variants in this complex...
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