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. 2020 Feb 19;8(4):e1133. doi: 10.1002/mgg3.1133

Figure 2.

Figure 2

Electropherogram of Sanger analysis of Patient K1 demonstrating: (a) change of one Adenin (A) for Guanin (G) at the position 3102 of exon 16 of the BLM gene (c.3102G>A:p.Thr1034=); (b) change of one Citosin (c) for Adenin (A) at the position 3531 of exon 18 of the BLM gene (c.3531C>A:p.Ala1177=); (c) change of one Citosin (C) for Timin (T) at the position 3945 of exon 21 of the BLM gene (c.3945C>T:p.Leu1315=); (d) change of one Timin (T) for Guanin (G) at the position 3358 in intron between exons 17 and 18 of the BLM gene (c.3358+32T>G), observed in Patient K1