GeneticsGenome MedicinePeer-reviewed
Investigation of an LPA KIV-2 nonsense mutation in 11,000 individuals: the importance of linkage disequilibrium structure in LPA genetics.
Silvia Di Maio, Rebecca Grüneis, Gertraud Streiter…·Stefan Coassin
The paper investigates the LPA KIV-2 nonsense mutation R21X in 11,000 individuals, finding it associated with lower Lp(a) levels and linked to a splice mutation, highlighting the importance of LD structure in LPA genetics.
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