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Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene

GlycosylationGenetic DisorderGeneticsGenetic EngineeringPathologyMolecular BiologyMolecular GeneticsGlucose-6-phosphate Translocase GeneDisease Gene IdentificationGenomicsMedicineLysosomal Storage DiseaseNovel Splice-site Mutation