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Fig. 3 | BMC Medical Genetics

Fig. 3

From: Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family

Fig. 3

a. Species sequence alignment of CDC73 encoding the proximal 5’UTR. The g tract (n = 8) and the ATG start codon are boxed. b Sequence chromatogram of leukocyte genomic DNA of proband (III-1, Fig. 1) showing heterozygosity for insertion of an additional guanidine in the tract of eight guanidines (c.–4_11insG). c Luciferase activity (mean ± SE) of cells transfected with either WT-5’UTR-pGL3 or MUT-5’UTR-pGL3 constructs. See text for details. *, p < 0.05. d (i) Parafibromin (Flag) and β-tubulin (Tubulin) western blots of cells transfected with either WT-5’UTR-Flag or MUT-5’UTR-Flag constructs. (ii) Densitometric analysis. **, p < 0.01. See text for details

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BMC Medical Genetics

ISSN: 1471-2350

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