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We have investigated the long term outcome of 16 patients with familial hypercholesterolemia (FH) who were diagnosed as homozygotes (n = 8) or compound heterozygotes (n = 8) for 15 different mutations in the LDL receptor gene. In vitro LDL receptor activity was negative in 12 subjects; defective in 4. At first examination 50% patients were aged <10 (mean (m) age = 8.5 ± 6 yrs); all had cutaneous...
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