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Fig. 2 | BMC Medical Genetics

Fig. 2

From: A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia

Fig. 2

Mutation analysis. a Family pedigree. The arrow indicates the proband in the family. b Mutation screening. Sequences of the wild-type (WT) and mutant (MUT) RUNX2 gene sequences occurring in exon 3. Nucleotides highlighted in the red boxes show the insertion mutations. c Forward DNA sequencing results. Panels I-1 and I-2 show the sequences of wild-type RUNX2 alleles, and panel II-1 shows double peaks within this region. d Reverse DNA sequencing results. Panels I-1 and I-2 show sequences of WT RUNX2 alleles, and panel II-1 shows a double-peak phenomenon

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