Fig. 2

Summary of reported PHKA2 mutation spectrum: a PHKA2 mutation types among all reported mutations in all ethnic populations; b PHKA2 mutation types identified in Asian GSD IX patients (other than Korean); c PHKA2 mutation types identified in Korean GSD IX patients; d Number of reported PHKA2 mutations in each exon (excluding gross deletions spanning more than one exon). The x-axis is the number of each coding exon and the y-axis is the number of identified mutations. *Gross deletion spanning more than one exon designated by additional asterisk and lines