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Autosomal Recessive Liver Phosphorylase Kinase Deficiency Caused by a Novel Splice-Site Mutation in the Gene Encoding the Liver Gamma Subunit (PHKG2)

HepatologyGenetic DisorderGeneticsInherited Metabolic DiseaseLiver PhysiologyPathologyMolecular GeneticsDisease Gene IdentificationGene EncodingLiver Gamma SubunitMedicineNovel Splice-site Mutation