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Sun X.M., Patel D.D., Bhatnager D., Knight B.L., Soutar A.K. Characterization of a splice-site mutation in the gene for the LDL receptor associated with an unpredictably severe clinical phenotype in English patients with heterozygous FH. - Arteroscler.Thromb.Vasc.Biol., 1995, v. 15, p. 219-227.

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