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A novel mutation of the PHKA2 gene in a patient with X-linked liver glycogenosis type 1 |
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| Authors: | Fumio Hidaka Hirotake Sawada Misayo Matsuyama Hiroyuki Nunoi |
| Affiliation: | Department of Pediatrics, Miyazaki Medical College, University of Miyazaki, Miyazaki, Japan. |
| Abstract: | |
| Keywords: | glycogen storage disease hypoglycemia missense mutation phosphorylase kinase α subunit X-linked liver glycogenosis |