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The chromatogram and pedigree of patient carried the novel mutation in LDLR gene. (A) The identified c.1014C > G nucleotide change shown in a chromatogram. (B) The pedigree of proband demonstrated the positive family history of hypercholesterolemia and myocardial infarction. The sister of proband is also heterozygote for the mutation. MI, myocardial infarction; HC, hypercholesterolemia.
