Article
A common nonsense mutation in the repetitive Kringle IV-2 domain of human apolipoprotein(a) results in a truncated protein and low plasma Lp(a).
Human mutation - 1 Dec 2004
Parson Walther, Kraft Hans Georg, Niederstätter Harald, Lingenhel Arnulf W, Köchl Silvano, Fresser Friedrich, Utermann Gerd
Abstract excerpt
LPA, the gene coding for apolipoprotein(a) [apo(a)], is the major determinant of lipoprotein(a) [Lp(a)] plasma levels, which are associated with risk for coronary heart disease (CHD) and stroke. It is not completely understood how variation in LPA relates to Lp(a) concentrations. One type of variation related to Lp(a) levels is the number of Kringle (K) IV-2 (g.61C>T; GenBank L14005.1) repeats in LPA, but...
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