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A pedigree chart of the present case. Pin dots indicate affected members carrying the Cys302Gly/Arg303Trp mutations and black symbols indicate affected members carrying an exon 6 large deletion. Question marks indicate members with unknown genotype. “I,” “II,” “III,” and “IV” indicate the generation of this family. Squares indicate men, circles indicate women. Asterisks indicate members clinically diagnosed with hypercholesterolemia.
