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A, DNA sequence of exon 5 in an unaffected individual and patient VI.15 of the P2 family, showing the homozygous nonsense R257X mutation. B, Pedigrees of P2 and E1 families, showing the ARMS analysis of R257X mutation. A specific primer was designed to generate an AvaII restriction site in the amplified wild-type allele. All RP-affected individuals are homozygous for the mutant, nonrestricted allele. Individuals whose DNA samples were not available are indicated by a number sign (#).
