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Rudolfová, J., Slováčková, R., Trbušek, M. et al. Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis. J Inherit Metab Dis 24, 85–87 (2001). https://doi.org/10.1023/A:1005635629149
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DOI: https://doi.org/10.1023/A:1005635629149