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Breakpoint characterization of ATM exon 19-27 deletion: long-range PCR confirmed the presence of the deletion, showing a 2.5 Kb PCR product in proband DNA. The analysis of other family members confirms the presence of the deletion in proband’s mother (lanes 4 and 5). Two DNAs from healthy subjects were amplified as control (lanes 2 and 3). Molecular weight (MW) markers are loaded in lanes 1 and 7.
