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Pedigrees of family 1 (a) and family 2 (b). The plasma cholesterol concentration (mmol/l) is shown below each symbol. Filled symbols, homozygous for the Q136X (a, family 1) or the delGG86,87 (b, family 2) mutations in ARH1; half-filled symbols, heterozygous carriers of the mutation, confirmed by sequencing amplified fragments of genomic DNA. Individuals whose cells were analyzed for LDL receptor activity or ARH1 mRNA levels are identified by a number in italics.
