Article
Nonsynonymous SNPs in LPA homologous to plasminogen deficiency mutants represent novel null apo(a) alleles.
Journal of lipid research - 1 Mar 2020
Morgan Benjamin M, Brown Aimee N, Deo Nikita, Harrop Tom W R, Taiaroa George, Mace Peter D, Wilbanks Sigurd M, Merriman Tony R, Williams Michael J A, McCormick Sally P A
Abstract excerpt
Plasma lipoprotein (a) [Lp(a)] levels are largely determined by variation in the LPA gene, which codes for apo(a). Genome-wide association studies (GWASs) have identified nonsynonymous variants in LPA that associate with low Lp(a) levels, although their effect on apo(a) function is unknown. We investigated two such variants, R990Q and R1771C, which were present in four null Lp(a) individuals, for structural and...
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