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Mutation analysis of an individual affected by a G→A mutation in position 1 of the APP 717 codon. α-S-dGTP, α-S-dATP and α-S-ddTTP are used in the primer extension reaction. At 1216 Da residual primer is observed. The mutant allele is observed at 1878 Da and wild-type allele at 1894 Da. The top is the spectrum of an individual who is wild type, the bottom an individual carrying the mutation on one allele.
