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Sequence chromatograms showing the mutation found in the kindred. A, Sequencing data from individual II-8, representing the normal JAG1 allele. B, Sequencing data from an affected patient (II-7), representing the normal and the mutant JAG1 alleles. A G→A transition changes the codon for cysteine (TGC) in position 234 of the JAG1 protein to the codon for tyrosine (TAC).
