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. Author manuscript; available in PMC: 2015 Aug 1.
Published in final edited form as: Neurol Clin. 2014 Aug;32(3):751–ix. doi: 10.1016/j.ncl.2014.04.010

Figure 1.

Figure 1

Schematic representations of GAA genomic location and structure (A) and its protein structure (B). GAA maps to chr17q25.3 and consists of 20 (19 coding) exons which encode 952 amino acids. Mutations (DNA variants) identified in this study are shown according to their respective genomic position. Novel variants are boxed. GAA has 4 isoforms (a-d), 2 catalytically active sites (*), 3 disulfide bonds (s-s) and 7 N-linked glycosylation sites (∇).