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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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Keywords: X-linked liver glycogenosis; glycogen storage disease; hypoglycemia; missense mutation; phosphorylase kinase α subunit

Document Type: Research Article

Affiliations: Department of Pediatrics, Miyazaki Medical College, University of Miyazaki, Miyazaki, Japan

Publication date: 01 December 2005

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