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Genetic Testing of Korean Familial Hypercholesterolemia Using Whole-Exome Sequencing

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Table 1. Clinical characteristics of enrolled familial hypercholesterolemia patients.
Fig 1. Exome sequencing analysis of familial hypercholesterolemia (FH). The steps for identifying FH-causing variants in three genes are shown, in addition to the subsequent genetic analyses of whole-exome sequencing data that led to the identification of
Table 2. Known pathogenic mutations in three FH-linked genes (n = 69).
Fig 2. Pedigree analysis of a patient with LDLR p.D834Rfs/- mutation. (A) A simplified pedigree of the P05 family
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