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. 2010 Nov 24;19(3):287–292. doi: 10.1038/ejhg.2010.213

Figure 3.

Figure 3

(a) SAMHD1-deletion breakpoints. PCR primers across the deletion and a chromatogram demonstrating the sequence across the breakpoints. (b) PCR amplification of exon 1. (c) PCR amplification across the deletion breakpoints. M-100 bp ladder; 1: father; 2: mother; 3: proband, 4: CVS – 7th pregnancy; 5: fetus I; 6: fetus II; 7: normal; 8: normal; 9: blank. (d) Pedigree of the family with SAMHD1 genotypes. (e) Southern blot analysis of PvuII-digested DNA of the proband (1) and the two aborted fetuses (2) in various tissues.