Publication | Open Access

Silent exonic mutation in the acid-α-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing

EngineeringGeneticsRna SplicingMolecular BiologyMolecular GeneticsDisease Gene IdentificationSplicing VariantTranscriptional RegulationMolecular DiagnosticsRna ProcessingGlycosylationAcid-α-glycosidase GeneInherited Metabolic DiseaseGene ExpressionGenetic DisorderSeed StorageMedicineSilent Exonic MutationLysosomal Storage Disease