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Restriction analysis (A, B, D, and F) and allele-specific PCR (ASP) (C and E) using genomic DNA from patients and their respective relatives. (A to F) Families of patients 1 to 6, respectively. Closed and open arrowheads point to mutant and wild-type fragments. Closed symbols and arrows indicate patients; half-shaded symbols represent asymptomatic carriers. The −46G/A polymorphism in A is linked to the 107del215 mutation.
