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Figure 4 | BMC Medical Genetics

Figure 4

From: 1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes

Figure 4

DNA sequencing of UBE3A gene for patients III.1 and III.5. A) Schematic representation of the structure of UBE3A gene. Squares: exons; White squares: untranslated regions (UTRs); Black squares: coding exons; Black line: introns. B) The upper panel shows the direct sequencing of the DNA fragment obtained subsequently to PCR. Middle and lower panels show the sequencing of the same DNA fragments amplified by PCR after cloning into TOPO TA cloning vector (Invitrogen). The middle panel shows the sequencing obtained for the mutated allele [1031-1034delTAAC (Leu125Stop)], and the lower panel shows the sequencing obtained for the non-mutated allele.

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