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Figure 2. Analysis of the PITX2 gene. (A) Genomic structure of the PITX2 gene. The numbered boxes represent the exons. The translation start (ATG) and stop (TAG) codons are indicated. The black box represents the homeobox. The arrows indicate the amplification primers used for mutation screening. The black triangle shows the position of the four-base-pair deletion in this report. (B) SSCP analysis was used to screen for mutations in PITX2 in this family. Arrows indicate aberrantly migrating PCR products of each patient of the family. (C) Sequence analysis of PCR products of exon 5. Direct sequencing of the PCR product in individual III:4 shows overlapping peaks after nucleotide 716 of the cDNA. The subclone sequencing shows the deletion of ACTT, indicated with an arrow.
J DENT RES, Vol. 82, No. 12,
1008-1012 (2003)
DOI: 10.1177/154405910308201214
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