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Wiebusch H., Funke H., Bruin T., Bucher H., von Eskardstein A., Kastelein J.J.P., Assmann G. Compound heterozygosity for a known (D250W) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial hypercholesterinemia. - Hum.Mut., 1996, v. 8, p. 381-383.

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