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Bertolini, S., Cantafora, A., Averna, M., Cortese, C., Motti, C., et al. (2000) Clinical Expression of Familial Hypercholesterolemia in Clusters of Mutations of the LDL Receptor Gene that Cause a Receptor-Defective or Receptor-Negative Phenotype. Arteriosclerosis, Thrombosis, and Vascular Biology, 20, E41-E52.
http://dx.doi.org/10.1161/01.ATV.20.9.e41

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