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DNA sequence chromatograms and co-segregation analysis of the p.N450Y mutation with disease phenotype. A: Heterozygote sequence (sense strand) shows an A/T transition in codon 450 that changed asparagine (AAC) to tyrosine (TAC). B: Restriction fragment length analysis shows the p.N450Y mutation abolishing a HindII site co-segregated with JOAG patients, ocular hypertensions, and the carriers (342 and 279 bp), but not with unaffected individuals (279 bp).
