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. 2012 Dec 10;39(5):562–571. doi: 10.1111/nan.12007

Figure 1.

Figure 1

The p.K54E mutation identified in ANG. The non-synonymous A>G nucleotide substitution at position c.232 gives rise to the amino acid substitution, p.K54E. Chromatograms are shown for wild-type sequence (a), and the heterozygous c.232A>G case (b). Screening for this change in control samples was conducted by digestion of the ANG PCR product with TaqαI. Presence of the G allele introduces a TaqαI digest site, resulting in the production of 287 bp and 263 bp fragments from the 550 bp PCR product (c).